standard

Due to the implementation of the human genome project and the rapid development of molecular biology and bioinformatics, the concepts of "precision medicine", "personalized medicine" and "targeted therapy" have been widely recognized in the clinic, and the concept of Companion diagnostics is gradually known to the public. At present, many diseases have confirmed the existence of multiple driver genes, and each of them has corresponding solutions for targeted drugs. At the same time, many different types of Companion diagnostics kits have been developed in the market. In order to improve the accuracy of in vitro diagnostic kits, high-quality gDNAs extracted from point mutation cell lines are used as the raw material for quality control, which can not only simulate clinical samples, but also facilitate the development of diagnostic kits.

Why do you need high-quality gDNA?

High quality gDNA is the first step in the development of diagnostic kits and the basis for the deployment of different mutation frequencies. When the extracted gDNA contains impurities such as protein, RNA and organic matter, it will affect the stability and uniformity of gDNA, especially the determination of its concentration, which will greatly hinder the later research and production.
Cell line derived gDNA is the trend of quality control in IVD industry

Strict regulation of biomaterials makes it more difficult to obtain clinical samples for gene mutation diagnosis kit development. And there are many problems in using clinical samples as positive control for diagnosis kits, which makes gene mutation diagnosis kit manufacturers focus on cell lines carrying mutations.

Problems in using clinical samples as positive control:

Limited samples, non renewable

High heterogeneity, poor stability

Involving ethical issues and affected by laws and regulations

Rare mutation sites are difficult to obtain

Unable to accurately quantify, unclear copy number and allele number

The positive controls derived from cell lines have the following advantages:

Routine QC, better monitor the stability of the platform and manual operation, and eliminate background interference.

Better verify the sensitivity and specificity, and provide QC standard for the platform and process system.

Accurately define the threshold of each mutation.

As a quality control for R&D, it provides a stable quality control standard for the R&D process.
CRISPR/Cas9 gene editing cell lines can simulate clinical samples of any diseases

With the discovery of more and more essential mutation sites and the development of new targeted therapies, Common genetic mutations carried by cell lines are difficult to keep up with the current pace of innovation. In addition, for other indications, such as cardiovascular diseases, central nervous system diseases, inflammation, etc., it is difficult to find point mutations against these diseases from cell lines, because most of the cell lines are tumor cell lines, and few cell lines for these indications. What’s more, there are a large variety of cell lines, and it is not a low-cost and efficient way to undertake the process of purchase, culture, genome extraction for sequencing for every cell line. Moreover, it is very likely that the cell line carrying certain mutation cannot be found after verifying a large number of cell lines. Under this circumstance, using CRISPR/Cas9 technology to introduce disease mutation in cell line has become an important means to solve the problems and achieve simulation of clinical samples.

Ubigene products and services

Faster With the support of EZ-editor™ series products and Red Cotton™ point mutation strategy design system, the project progress is faster.

Higher With exclusive CRISPR-U™ technology combined with optimized gene-editing point mutation system, positive rate is higher.

Stronger With 12 years of gene editing experience and continuosly accumulated gene-editing experience based on thousands of success cases, Ubigene becomes stronger and stronger.

Companion Diagnostics

As an in vitro diagnostic technique, the companion diagnostics results can provide information about the treatment response of patients to specific therapeutic drugs, so as to determine the patient population that most likely to respond to the drug, which is helpful to formulate and adjust the treatment before and during the treatment, as well as improve the treatment prognosis and reduce the health care expenditure. At present, it has become trendy to carry out individualized treatment of tumors with the help of genetic diagnosis information obtained by companion diagnostics.

With more than 12 years of experience in cell line culture and gene editing, Ubigene can provide high-quality gDNA products and services to meet the needs of IVD kits development, quality control and registration.

Products (gDNA and cell lines)

High accuracy

Stable

Highly stimulate

Multiple applications

Gene	Mutated base	Mutated amino acid	Genotype
BRAF	c.1799T>A	p.V600E	Homozygote
EGFR	c.2235_2249del15	p.E746-A750del(1)	Heterozygote
	c.2369C> T	p.T790M	Heterozygote
	c.2155G>A	p.G719S	Heterozygote
	c.2303G>T	p.S768I	Homozygote
	c.2236_2250del15	p.E746-A750del(2)	Heterozygote
	c.2573T>G	p.L858R	Heterozygote
KRAS	c.34G>A	p.G12S	Homozygote
	c.35G>C	p.G12A	Homozygote
	c.38G>A	p.G13D	Heterozygote
	c.35G>A	p.G12D	Homozygote
	c.35G>T	p.G12V	Homozygote
	C.182A>T	p.Q61L	Heterozygote
	c.183A>T	p.Q61H	Homozygote
NRAS	c.35G>A	p.G12D	Heterozygote
	c.181C>A	p.Q61K	Heterozygote
	c.34G>T	p.G12C	Heterozygote
	c.34G>A	p.G12S	Heterozygote
	C.183A>T	p.Q61H	Heterozygote
	C.182A>T	p.Q61L	Heterozygote
PIK3CA	c.1633G>A	p.E545K	Heterozygote
	c.3140A>G	p.H1047R	Heterozygote
	c.1624G>A	p.E542K	Heterozygote

Services (Custom cell lines)

Stable

High purity

Multiple applications

Highly stimulate

Signature customize services

For rare tumor mutation sites or other indications, CRISPR-U™ technology can efficiently introduce target mutations into cell lines.

CRISPR-U™ is a gene editing technology independently developed by Ubigene which has higher gene cutting efficiency than ordinary CRISPR/Cas9 technology and can greatly improve the efficiency of homologous recombination, easily achieving gene knockout (KO), point mutation (PM) and knockin (KI) at the cellular and animal levels. Taking advantage of CRISPR-U™ technology, Ubigene has successfully achieved gene editing on more than 200 kinds of cell lines. Providing high-quality of experimental strategy and vector with the abundant experience of more than 200 cell lines and 5000 genes; Significantly increasing the transfection rate — thanks to the mature transfection system as well as the special transfection medium; Improving the single-cell clone formation rate by at least 30% with the great help of the single-cell clone culture medium; Easily realizing the batch validation of single-cell clones when growing in 96-well plate with the support of the single-cell clone validation kit. Ubigene comprehensively optimized all aspects of the gene-editing experiment to ensure the effective improvement of the success rate of gene-editing experiments and easy delivery of positive clones!

Mutation list

ABL1	1	2	3	4	5
ABL1	ABL1-RCSD	FOXP1-ABL1	ABL1-RCSD1	FOXP1-ABL1 fusion	SNX2-ABL1 fusion
ABL1	6	7	8	9	10
ABL1	ETV6-ABL1	H201L	Y232S	M237V	I242T
ABL1	11	12	13	14	15
ABL1	BCR-ABL M244V	BCR-ABL L248V	BCR-ABL L248R	BCR-ABL G250E	G250V
ABL1	16	17	18	19	20
ABL1	Q252H	Q252R	BCR-ABL Y253H	Y253F	BCR-ABL E255K
ABL1	21	22	23	24	25
ABL1	BCR-ABL E255V	E258D	L273M	BCR-ABL D276G	T277A
ABL1	26	27	28	29	30
ABL1	E279K	E281K	V289I	E292V	L298V
ABL1	31	32	33	34	35
ABL1	BCR-ABL V299L	Q300R	BCR-ABL F311L	BCR-ABL F311I	BCR-ABL T315I
ABL1	36	37	38	39	40
ABL1	BCR-ABL T315A	BCR-ABL F317L	BCR-ABL F317V	BCR-ABL F317C	BCR-ABL F317S
ABL1	41	42	43	44	45
ABL1	BCR-ABL F317I	BCR-ABL N331S	N336S	G340L	Y342H
ABL1	46	47	48	49	50
ABL1	M343T	BCR-ABL M351T	R351W	BCR-ABL E355G	BCR-ABL F359V
ABL1	51	52	53	54	55
ABL1	BCR-ABL F359C	BCR-ABL F359I	D363Y	BCR-ABL L364P	L364I
ABL1	56	57	58	59	60
ABL1	A365V	A366G	BCR-ABL V379I	L384M	BCR-ABL L387F
ABL1	61	62	63	64	65
ABL1	BCR-ABL L387M	M388L	Y393C	BCR-ABL H396R	BCR-ABL H396P
ABL1	66	67	68	69	70
ABL1	BCR-ABL A397P	BCR-ABL G398R	S417Y	I418V	I418S
ABL1	71	72	73	74	75
ABL1	D421G	I432T	S438C	P441L	BCR-ABL E450V
ABL1	76	77	78	79	80
ABL1	E450G	E450K	E450Q	E450A	BCR-ABL E453A
ABL1	81	82	83	84	85
ABL1	BCR-ABL E453K	BCR-ABL E453Q	E453V	E459G	BCR-ABL E459K
ABL1	86	87	88	89	90
ABL1	M472I	C475V	BCR-ABL P480A	P480L	BCR-ABL F486S
ABL1	91	92	93	94
ABL1	F486Y	G514S	NUP214-ABL1	BCR-ABL
ABL2	1
ABL2	ABL2 fusions
ADRB1	1
ADRB1	Gly389Arg（c.1165G>A/C）
AKT1	1	2
AKT1	E17K	Q79K
AKT3	1
AKT3	E17K
ALDH2	1
ALDH2	Glu504Lys（1510G>A）
ALK	1	2	3	4	5
ALK	RANBP2-ALK	EML4-ALK	R214H	DEL4-11	T1151M
ALK	6	7	8	9	10
ALK	L1152P	F1174L	F1174C	F1174V	R1192P
ALK	11	12	13	14	15
ALK	L1196Q	L1198F	L1198P	F1245C	F1245V
ALK	16	17	18	19	20
ALK	R1275Q	EML4-ALK E2;A20	EML4-ALK E6;A20	HIP1-ALK I1171N	EML4-ALK T1151INST
ALK	21	22	23	24	25
ALK	EML4-ALK L1152R	EML4-ALK C1156Y	EML4-ALK I1171S	EML4-ALK V1180L	EML4-ALK L1196M
ALK	26	27	28	29	30
ALK	EML4-ALK S1206Y	EML4-ALK G1269A	EML4-ALK E20;A20	ALK fusion	CLTC-ALK
ALK	31	32	33	34
ALK	NPM-ALK	STRN-ALK	EML4-ALK C1156Y–L1196M	EML4-ALK C1156Y–L1198F
ANKK1	1
ANKK1	Glu713Lys（c.2317G>A）
AR	1	2
AR	SPLICE VARIANT 7	F877L
ARAF	1	2
ARAF	S214C	S490T
ARID1A	1	2
ARID1A	Q456*	P1175FS*5
ATM	1	2
ATM	N2875H	V2288FS*1
ApoE	1	2
ApoE	Cys130Arg（c.388T>C）	Arg176Cys（c.526C>T）
B2M	1
B2M	S14FS
BRAF	1	2	3	4	5
BRAF	PAPSS1-BRAF	ZKSCAN1-BRAF	BRAF-CUL1	MACF1-BRAF fusion	CUX1-BRAF
BRAF	6	7	8	9	10
BRAF	PPFIBP2-BRAF	TRIM24-BRAF	FAM131B-BRAF	G464V	G466V
BRAF	11	12	13	14	15
BRAF	G466A	G469A	G469V	G469R	G469E
BRAF	16	17	18	19	20
BRAF	K483M	G496A	L505H	N581S	D594G
BRAF	21	22	23	24	25
BRAF	D594N	D594A	D594V	F595L	G596R
BRAF	26	27	28	29	30
BRAF	G596C	G596V	L597Q	L597R	L597S
BRAF	31	32	33	34	35
BRAF	L597V	V600E	V600	V600K	V600D
BRAF	36	37	38	39	40
BRAF	V600R	K601E	G606E	P731T	AGK-BRAF
BRAF	41	42	43	44	45
BRAF	DELNVTAP	WASFL-BRAF fusion	DEL 485-490	V600E+V600M	V600_K601DELINSD
BRCA1	1	2	3	4	5
BRCA1	M1V	M1I	C61G	C64Y	R71G
BRCA1	6	7	8	9	10
BRCA1	R71K	R1443*	Q1467*	R1495M	E1559K
BRCA1	11	12
BRCA1	D1692N	W1815X
BRCA2	1	2	3	4	5
BRCA2	M1R	M1I	V159M	V211L	V211I
BRCA2	6	7
BRCA2	R2336P	R2336H
BRD4	1
BRD4	BRD4-NUTM1
BTK	1	2
BTK	T316A	C481S
CALR	1
CALR	EXON 9 FRAMESHIFT
CBL	1	2	3	4
CBL	Q294E	V391I	W802*	S80N/H94Y
CDKN2A	1	2
CDKN2A	A20P	W110*
CRLF2	1
CRLF2	Phe232Cys
CSF1R	1
CSF1R	MEF2D-CSF1R
CSF3R	1
CSF3R	T618I
CTLA4	1
CTLA4	CTLA4-CD28
CTNNB1	1	2
CTNNB1	T41A	S45F
CYP2C19*17	1
CYP2C19*17	c.-806C>T
CYP2C19*2	1
CYP2C19*2	c.681G>A
CYP2C19*3	1
CYP2C19*3	p.Trp212Ter（c.636G>A）
CYP2C9*2	1
CYP2C9*2	Arg144Cys（430C>T）
CYP2C9*3	1
CYP2C9*3	Ile359Leu（1075A>C）
CYP2D6*10	1
CYP2D6*10	Pro34Ser（c.100C>G）
CYP2D6*3	1
CYP2D6*3	A2637 deletion
CYP2D6*4	1
CYP2D6*4	G1934A
CYP2D6*5	1
CYP2D6*5	CYP2D6 deletion
CYP3A5*3	1
CYP3A5*3	6986A>G
CYP4F2*3	1
CYP4F2*3	V433M（c.1297G>A）
DDIT3	1
DDIT3	FUS-DDIT3
DDR2	1	2	3	4	5
DDR2	L63V	L239R	G253C	G505S	I638F
DDR2	6	7
DDR2	S768R	G774V
DEK	1
DEK	DEK-AFF2 fusion
DPYD	1	2
DPYD	DPYD*2A HOMOZYGOSITY	DPYD*13 HOMOZYGOSITY
DPYD*2A	1
DPYD*2A	1986A>G（IVS14+1G>A）
EGFR	1	2	3	4	5
EGFR	Exon 18 deletion	EXON 19 DELETION	EXON 20 INSERTION	EGFR-RAD51 fusion	R108K
EGFR	6	7	8	9	10
EGFR	T263P	A289V	F404I	F404V	T415M
EGFR	11	12	13	14	15
EGFR	V441G	V441D	V441F	S442R	S442I
EGFR	16	17	18	19	20
EGFR	R451C	I462K	I462R	S464L	S464T
EGFR	21	22	23	24	25
EGFR	G465E	G465V	G465R	K467T	K467N
EGFR	26	27	28	29	30
EGFR	K489Q	K489E	I491K	I491R	S492R
EGFR	31	32	33	34	35
EGFR	S492C	P546S	A702S	R705K	E709Q
EGFR	36	37	38	39	40
EGFR	G719S	G719A	G719D	G719	S720
EGFR	41	42	43	44	45
EGFR	G724S	W731L	E734Q	V742A	E746V
EGFR	46	47	48	49	50
EGFR	E746G	L747P	A750T	P753S	K757R
EGFR	51	52	53	54	55
EGFR	D761N	D761Y	S768I	S768N	V769A
EGFR	56	57	58	59	60
EGFR	delD770insGY	N771DELinsVH	V774A	V774M	R776C
EGFR	61	62	63	64	65
EGFR	S784F	T785A	T790M	C797S	C797Y
EGFR	66	67	68	69	70
EGFR	Y801H	K806E	G810S	N826Y	N826S
EGFR	71	72	73	74	75
EGFR	R831H	V834I	L838P	L838V	N842S
EGFR	76	77	78	79	80
EGFR	T847I	P848L	V851I	T854A	L858R
EGFR	81	82	83	84	85
EGFR	A859T	L861R	L861Q	L861	A864T
EGFR	86	87	88	89	90
EGFR	E868G	E884K	RARE EX 18-21 MUT	Y69FS*11	Ex19 del L858R
EGFR	91	92	93	94	95
EGFR	VIII	E709K+G719A	E 709A+G719C	I744_K745insKIPVAI	K745_E749delKELRE
EGFR	96	97	98	99	100
EGFR	E746_A750delELREA	delE746_A750	E746_T751delinsA	E746_T751delinsVA	L747_T751delLREAT
EGFR	101	102	103	104	105
EGFR	L747_S752del	L747_S752INSQ	L747_P753delinsS	delL747_P753insS	S752_I759delSPKANKEI
EGFR	106	107	108	109	110
EGFR	A763_Y764insFQEA	Y764_V765insHH	M766_A767insASV	M766_A767insAI	A767_V769dupASV
EGFR	111	112	113	114	115
EGFR	S768_D770dup	V769_770insASV	D770_N771insNPG	D770_N771insSVD	D770_N771insGL
EGFR	116	117	118	119	120
EGFR	D770_N771insGT	D770_N771insGY	N771>003eGY	P772_H773insH	P772_H773insYNP
EGFR	121	122	123	124	125
EGFR	P772_V774insPHV	H773_V774insH	H773_V774insNPH	V774_C775insHV	E709_T710>003eD
EGFR	126	127	128	129	130
EGFR	E746_A750>003eIP	E746_T751>003eI	E746_S752>003eD	E746_S752>003eA	L747_A750>003eP
EGFR	131	132	133
EGFR	L747_T751>003eP	L747_T751>003eQ	L747_P753>003eQ
ERBB2	1	2	3	4	5
ERBB2	G309A	S310F/Y	L638S	R678Q	K753E
ERBB2	6	7	8	9	10
ERBB2	L753E	L755S	L755W	L755P	K755S
ERBB2	11	12	13	14	15
ERBB2	L768S	D769Y	D769H	V773A	V773
ERBB2	16	17	18	19	20
ERBB2	V773L	M774DELINSWLV	G776L	V777L	P780INS
ERBB2	21	22	23	24	25
ERBB2	T798I	T798M	V842I	N857S	T862A
ERBB2	26	27	28	29	30
ERBB2	L866M	L869R	H878Y	R896C	ERBB2 G776INSV_G/C
ERBB2	31	32	33	34
ERBB2	DEL 755-759	Y772_A775DUP	A775_G776insYVMA	G778_P780DUP
ERBB3	1	2	3	4
ERBB3	R103G	V104M	G284R	V855A
ERBB4	1
ERBB4	G1109C
ERRFI1	1
ERRFI1	E384*
ESR1	1	2	3	4	5
ESR1	E380Q	S463P	L536Q	L536R	Y537S
ESR1	6	7	8
ESR1	Y537N	Y537C	D538G
EWSR1	1
EWSR1	EWSR1-NR4A3
EZH2	1	2	3
EZH2	Y646	EZH2 Y641F	Y646 or Y641
FBXW7	1	2	3	4	5
FBXW7	R505C	R505H	G579W	R658Q	L403FS*34
FBXW7	6
FBXW7	S668FS*39
FCGR3A	1
FCGR3A	F212V
FGFR1	1	2
FGFR1	N546K	ZNF198-FGFR1
FGFR2	1	2	3	4	5
FGFR2	FGFR2 fusions	FGFR2-BICC1	FGFR2-AHCYL1	FGFR2-TACC3	FGFR2-MGEA5
FGFR2	6
FGFR2	N550K
FGFR3	1	2	3	4	5
FGFR3	FGFR3 fusion	FGFR3-TACC3	R248C	S249C	FGFR3-BAIAP2L1
FGFR3	6	7	8	9	10
FGFR3	G370C	Y373C	Y375C	G380R	F386L
FGFR3	11	12	13	14	15
FGFR3	V443L	V443M	V496V	V555M	K650E
FGFR3	16
FGFR3	G691R
FLT3	1	2	3	4	5
FLT3	T227M	D835V	D835	D835H	D835H/Y
FLT3	6	7	8	9	10
FLT3	D835E	ITD	E588_Y589INSKYFYVDFRE	Y591_V592INSVDFREYE	V592_D593INSDFREY
FLT3	11
FLT3	E611_F612INS25
FOXO1	1
FOXO1	PAX3-FOXO1
G6PD	1	2	3	4	5
G6PD	95A>G	871G>A	1004C>T	1024C>T	1376G>T
G6PD	6
G6PD	1388G>A
GJB2	1	2	3	4	5
GJB2	35 del G	c.35insG	167 del T	c.235delC	299-300 del AT
GJB2	6
GJB2	176-191del 16
GJB3	1	2	3	4
GJB3	494C>T	c.538C>T	547G>A	1555A>G
GNAQ	1	2
GNAQ	Q209	Q209P
GNAS	1	2	3
GNAS	R201H	R201C	T393C
GSTP1	1
GSTP1	I105V
HBA	1	2	3	4	5
HBA	（-α3.7/）	（-α4.2/）	WS122	QS125	CS142
HBA	6	7
HBA	（--SEA/）	（--THAI/）
HBB	1	2	3	4	5
HBB	IVS-Ⅰ-1(G>T)	IVS-Ⅰ-5 (G>C)	CD17(AAG>TAG)	CD26(GAG>AAG)	-28（A>G)
HBB	6	7	8	9	10
HBB	-29(A>G)	-30(T>C)	CD31(-C)	-32(C>A)	CD43(GAG>TAG)
HBB	11	12	13	14	15
HBB	IVS-Ⅱ-654(C>T)	CD14-15(＋G)	CD27/28(＋C)	CD41-42(-CTTT)	CD71-72(＋A)
HBB	16	17
HBB	Initiation codon (ATG>AGG)	5′UTR Cap＋40-43-42(-AAAC)
HRAS	1	2	3	4	5
HRAS	G12D	G12V	G13D	G13R	G13V
HRAS	6	7	8
HRAS	Q61L	Q61R	Q61K
IDH1	1	2	3	4	5
IDH1	R132C	R132H	R132L	R132S	R132G
IDH2	1	2
IDH2	R140	R172K
IFNL3	1
IFNL3	基因上游约3 kb处（C>T/G）
JAK1	1	2	3	4
JAK1	P429S	Q503*	W690*	S703I
JAK2	1	2	3	4	5
JAK2	JAK2 fusions	Exon 12 splice site insertion	SSBP2-JAK2	V617F	JAK2 F694L
JAK3	1	2	3
JAK3	S61C	M511I	V722I
KDR	1	2	3
KDR	D717V	R961W	A1065T
KIT	1	2	3	4	5
KIT	M541L	P551L	Y553D	E554D	W557G
KIT	6	7	8	9	10
KIT	W557R	W557T	K558NP	K558R	K558Q
KIT	11	12	13	14	15
KIT	V559D	V559DEL	V559G	V559A	V559
KIT	16	17	18	19	20
KIT	V560G	V560D	V560DEL	T574A	Q575L
KIT	21	22	23	24	25
KIT	L576P	P577L	D579DEL	S628N	K642E
KIT	26	27	28	29	30
KIT	V654A	T661I	T670I	S692L	Q694K
KIT	31	32	33	34	35
KIT	C809G	D816V	D816H	D816Y	D816G
KIT	36	37	38	39	40
KIT	D816E	D820Y	D820A	D820G	N822K
KIT	41	42	43	44	45
KIT	N822K	N822H	Y823D	A829P	T417_D419DELTYDINSI
KIT	46	47	48	49	50
KIT	T417_D419delinsY	K484_G487DEL	S501_A502INSAY	A502_Y503insAY	Y503_F504insAY
KIT	51	52	53	54	55
KIT	F506_F508DUP	K550_W557del	K550_W557delKPMYEVQW	K550_K558del	K550_K559DEL
KIT	56	57	58	59	60
KIT	P551_E554delPMYE	M552_W557DEL	Y553_W557DELYEVQW	Y553_K558DEL	DEL 554-558
KIT	61	62	63	64	65
KIT	V555_Q556DEL	V555_V559DEL	V555_I571DEL	V555_P573DEL	Q556_I571DEL
KIT	66	67	68	69	70
KIT	W557_K558DELWK	W557_V559insC	W557_E561DEL	K558_V559del	V559_V560DEL
KIT	71	72	73	74
KIT	V560_L576DEL	V569_L576DEL	Y570_L576DEL	D579_H580insIDPTQLPYD
KRAS	1	2	3	4	5
KRAS	G12D	G12C	G12V	G12S	G12A
KRAS	6	7	8	9	10
KRAS	G12R	G12	G13D	G13C	G13V
KRAS	11	12	13	14	15
KRAS	G13R	G13S	Q22*	A59T	Q61H
KRAS	16	17	18	19	20
KRAS	Q61P	Q61L	Q61FS	Q61K	Q61R
KRAS	21	22	23	24	25
KRAS	Q61E	K117N	A146T	A146P	A146V
KRAS	26
KRAS	G12/G13
LYN	1
LYN	Y508F
MAP2K1	1	2	3	4	5
MAP2K1	F53L	Q56P	K57T	C121S	E203K
MAP2K1	6	7	8
MAP2K1	E102_I103delEI	C121S+G128D	56_61QKQKVG>003eR
MAP2K2	1
MAP2K2	F57C
MAPK1	1	2
MAPK1	E278E	E322K
MET	1	2	3	4	5
MET	MET-KIF5B fusion	EGFR T790M	D1010N	D1010H	D1010Y
MET	6	7	8
MET	D1028N	D1228V	D1228N
MGMT	1	2
MGMT	PROMOTER METHYLATION	RS16906252
MTHFR	1	2
MTHFR	C677T	A1298C
MTOR	1	2	3	4	5
MTOR	H1968Y	A2034V	F2108L	P2213S	Q2223K
MTOR	6	7
MTOR	M2327I	E2014K+E2419K
MTRR	1
MTRR	A66G
MYD88	1
MYD88	L265P
NAT2	1	2	3	4
NAT2	R64Q	I114N（c.341T>A）	R197Q（c.590G>A）	G286E（c.857G>A）
NF1	1
NF1	R163X
NF2	1
NF2	K159FS*16
NOTCH1	1
NOTCH1	L1678P
NPM1	1
NPM1	W288FS
NRAS	1	2	3	4	5
NRAS	G12D	G12S	G12C	G12V	G13R
NRAS	6	7	8	9	10
NRAS	G13C	G13D	G13V	Q61K	Q61R
NRAS	11	12	13	14
NRAS	Q61	Q61L	Q61H	Q179X
NRG1	1	2	3
NRG1	NRG1 fusion	SDC4-NRG1	ATP1B1-NRG1 fusion
NT5C2	1	2	3
NT5C2	K359Q	R367Q	D407A
NTRK1	1	2	3	4	5
NTRK1	NTRK1 fusionS	LMNA-NTRK1	SQSTM1-NTRK1	NTRK1-DDR2	NTRK1-GON4L
NTRK1	6	7	8	9	10
NTRK1	TMP3-NTRK1	PDE4DIP-NTRK1	NTRK1-TRIM63	G595R	LMNA-NTRK1 G595R+G667C
NTRK2	1	2
NTRK2	NTRK2-STRN fusion	ETV6-NTRK2
NTRK3	1	2	3	4	5
NTRK3	NTRK3 fusionS	ETV6-NTRK3	ETV6-NTRK3 fusion	G623R	ETV6-NTRK3 G623R
PAPPA2	1
PAPPA2	Y1520X
PDGFB	1
PDGFB	EBF1-PDGFRB
PDGFRA	1	2	3	4	5
PDGFRA	TNKS2-PDGFRA	FIP1L1-PDGFRA	V561D	V561A	P577S
PDGFRA	6	7	8	9	10
PDGFRA	L579M	R841K	D842V	D842Y	D842I
PDGFRA	11	12	13	14	15
PDGFRA	I843DEL	H845Y	G853D	FIP1L1-PDGFRA T674I	W559_R560DELWR
PDGFRA	16	17	18
PDGFRA	DI842-843VM	DIM842_844DEL	D842_H845DELDIMH
PDGFRB	1	2	3	4
PDGFRB	EBF1-PDGFRB	ATF7IP-PDGFRB	AGGF1-PDGFRB, AGGF1-PDGFRB C843G	PDGFRB fusionS
PIK3CA	1	2	3	4	5
PIK3CA	E81K	R93W	K111N	S158L	N345K
PIK3CA	6	7	8	9	10
PIK3CA	D350G	I391M	C420R	P471L	E542K
PIK3CA	11	12	13	14	15
PIK3CA	E542Q	E545K	E545D	E545G	E545Q
PIK3CA	16	17	18	19	20
PIK3CA	E545A	E545V	E545X	Q546K	Q546E
PIK3CA	21	22	23	24	25
PIK3CA	D549N	Y1021C	R1023Q	M1043I	H1047R
PIK3CA	26	27	28	29	30
PIK3CA	H1047Y	H1047L	H1047X	G1049R	G1049S
PIK3CA	31
PIK3CA	G1049A
PIK3R2	1
PIK3R2	N561D
PML	1	2	3
PML	PML-RARA A216V	PML-RARA L218P	PML-RARA
PMS2	1
PMS2	K706FS*19
POLD1	1	2	3
POLD1	C284Y	E374K	Y956N
POLE4	1
POLE4	A59E
PPP1R15A	1
PPP1R15A	RS557806
PREX2	1
PREX2	R172I
PTCH1	1	2	3	4
PTCH1	Q17X	W170X	W712X	Q787X
PTEN	1	2	3
PTEN	R130*	R233*	V317FS
PTPRD	1
PTPRD	V253I
PXDNL	1
PXDNL	P1460T
RAC1	1
RAC1	P29S
RAD50	1
RAD50	L1237F
RAF1	1
RAF1	R391W
RET	1	2	3	4	5
RET	KIF5B-RET	CCDC6-RET	C634W	V804M	M918T
RET	6	7
RET	KIF5B-RET V804L	KIF5B-RET G810A
ROS1	1	2	3	4	5
ROS1	TFG-ROS1	S1986Y	S1986F	G2032R	D2033N
ROS1	6	7	8	9
ROS1	CD74-ROS1 L2026M	CD74-ROS1 G2032R	CD74-ROS1 G2101A	CD74-ROS1 L2155S
SCN8A	1
SCN8A	Q225X
SERPING1	1
SERPING1	3'UTR突变（c.*49=, C>A/G/T）
SF3B1	1	2
SF3B1	K666N	K700E
SLC26A4	1	2	3	4	5
SLC26A4	IVS7-2A>G	c.281C>T	c.589G > A	c.1174A > T	1226G>A
SLC26A4	6	7	8	9	10
SLC26A4	c.1229C > T	1975G>C	c.2027T > A	2162C>T	c.2168A > G
SLC26A4	11	12
SLC26A4	c.919-2A >G	c.1707+5 G>A
SLCO1B1	1	2
SLCO1B1	Asn130Asp（c.388 A>G）	Val174Ala（c.521 T>C）
SMO	1	2	3	4	5
SMO	T241M	S278I	W281C	W281L	V321M
SMO	6	7	8	9	10
SMO	I408V	L412F	A459V	C469Y	D473H
SMO	11	12	13	14	15
SMO	D473G	D473Y	Q477E	G497W	S533N
SMO	16
SMO	W535L
STK11	1	2	3
STK11	LKB1	D194E	F354L
TP53	1	2	3	4	5
TP53	V157F	R158L	R158H	R175H	R213P
TP53	6	7	8	9	10
TP53	Y220C	M237I	G245S	R248Q	R248W
TP53	11	12	13	14	15
TP53	R249S	R273H	R273C	P278S	R280K
TP53	16	17
TP53	R280T	R282L
TPMT*2	1
TPMT*2	A80P（238G>C）
TPMT*3A	1	2
TPMT*3A	Ala154Thr（460G>A）	Tyr240Cys（719A>G）
TPMT*3B	1
TPMT*3B	Ala154Thr（460G>A）
TPMT*3C	1
TPMT*3C	Tyr240Cys（719A>G）
TSC1	1
TSC1	FRAMESHIFT TRUNCATION
TSC2	1
TSC2	Q1178*
UGT1A1	1	2
UGT1A1	UGT1A1*28	UGT1A1*60
UGT1A1*6	1
UGT1A1*6	G71R（211G>A）
VHL	1	2
VHL	N78S (c.233A>003eG)	R200W (c.598C>003eT)
VKORC1	1
VKORC1	启动子区（-1639 G>A）
WEE1	1
WEE1	RS3910384

Drug metabolic enzymes and drug targets

The genetic variation and expression level of genes related to drug metabolism, transport and drug target can lead to individual differences in drug responsiveness by affecting the concentration and sensitivity of drugs in vivo. Pharmacogenomics has become an important tool for guiding clinical individualized drug use, assessing the risk of serious adverse drug reactions , guiding new drug development and evaluating new drugs. The detection of drug metabolic enzymes and drug targets can guide the clinical selection of appropriate drugs and dosages for specific patients, so as to achieve individualized medication, and thereby improve the effectiveness as well as the safety of drug treatment and prevent the occurrence of serious adverse drug reactions. At present, the US FDA and China's food and Drug Administration (CFDA) have approved a series of gene diagnostic kits for personalized drugs. In response to this trend, Ubigene have already launched services of drug metabolic enzymes and drug target cell line generation or gDNA customization.

Cardiovascular and cerebrovascular diseases

Gene	Mutation
CYP2C19	CYP2C19*2, Exon 5c.681G>A, SNP rs424428
CYP2C19	CYP2C19*3, Exon 4c.636G>A, SNP rs4986893
CYP2C19	CYP2C19*17, Promoter c.-806C>T, SNP rs12248560
ALDH2	Exon 12, Glu504Lys, SNP rs671
APOE	Exon 4, Cys130Arg, c.388T>C, SNP rs429358
APOE	Exon 4, Arg176Cys, c.526C>T, SNP rs7412
SLCO1B1	Exon 5, Asn130Aspc, 388 A>G, SNP rs2306283
SLCO1B1	Exon 6, Val174Ala, c.521 T>C, SNP rs4149056
CYP2C9*3	Ile359Leu, A1075C（NM_000771.4）
CYP2C9*2	Arg144Cys, C430T（NM_000771.4）
ADRB1	Gly389Arg（NM_000684.3:c.1165G>A/C）
ACE I/D	288bp Alu indel in Intron 16

If your gene is not included in the list, please contact us to evaluate the strategy. Talk to our expert

Arthritis

Gene	Mutation
CYP2C9*3	Ile359Leu, A1075C（NM_000771.4）
CYP2C9*2	Arg144Cys, C430T（NM_000771.4）
G6PD	1388G>A
G6PD	1376G>T
G6PD	1024C>T
G6PD	1004C>T
G6PD	871G>A
G6PD	95A>G

If your gene is not included in the list, please contact us to evaluate the strategy. Talk to our expert

Tumor

Gene	Mutation
CYP2D6*3	A2637 deletion
CYP2D6*4	G1934A
CYP2D6*5	CYP2D6 deletion
CYP2D6*10	Pro34Ser, C188T
DPYD*2A	Exon 14 1986 A>G（Splice Donor Variant, C>G/T）
TPMT*2	238G>C, Ala80Pro
TPMT*3A	460G>A, Ala154Thr
TPMT*3A	719A>G, Tyr240Cys
TPMT*3B	460G>A, Ala154Thr
TPMT*3C	719A>G, Tyr240Cys
UGT1A1*6	G71R, 211G>A
TOP2A	TOP2A gene amplification and gene deletion
G6PD	1388G>A
G6PD	1376G>T
G6PD	1024C>T
G6PD	1004C>T
G6PD	871G>A
G6PD	95A>G

If your gene is not included in the list, please contact us to evaluate the strategy. Talk to our expert

Others

Gene	Mutation	Disease
CYP3A5*3	c.22893 in intron 3 has 6986A>G	Autoimmune diseases
VKORC1	Promoter region-1639 G>A	Thromboembolic diseases
CYP4F2*3	C>T, V433M（NM_001082.5:c.1297G>A）	Thromboembolic diseases
NAT2	NM_000015.3:c.341T>A, p.Ile114Asn	Tuberculosis
NAT2	NM_000015.3:c.590G>A, p.Arg197Gln
NAT2	NM_000015.3:c.857G>A, p.Gly286Glu
NAT2	NM_000015.3:c.191G>A, p.Arg64Gln
ANKK1	c.2317G>A, Glu713Lys	Mental diseases
IFNL3	SNP C>T/G in 3kb upstream of IFNL3	Hepatitis C
G6PD	1388G>A	Malaria, skin diseases
G6PD	1376G>T
G6PD	1024C>T
G6PD	1004C>T
G6PD	871G>A
G6PD	95A>G
HLA-B	HLA-B1502, HLA-B5801, HLA-B*5701	Neurological diseases, hyperuricemia, AIDS

If your gene is not included in the list, please contact us to evaluate the strategy. Talk to our expert

Prenatal diagnosis

Prenatal screening and prenatal diagnosis are important means for eugenics. Through prenatal screening and prenatal diagnosis, we can assess the risk of fetal abnormalities and make clear diagnosis, and then choose appropriate measures to prevent the occurrence of serious birth defects. At present, the development of kits for prenatal screening and prenatal diagnosis is popular, greatly improving the universality of prenatal screening and prenatal diagnosis. In response to this trend, Ubigene launched point mutation cell lines or gDNA customized services related to two popular genetic diseases (epicophosis and thalassemia).

Featured custom service

Disease	Gene	Mutated loci
Epicophosis	GJB2	c.235delC
Epicophosis	GJB2	35 del G
Epicophosis	GJB2	c.35insG
Epicophosis	GJB2	167 del T
Epicophosis	GJB2	176-191del 16
Epicophosis	GJB2	299-300 del AT
Epicophosis	GJB3	c.538C>T
Epicophosis	GJB3	547G>A
Epicophosis	GJB3	494C>T
Epicophosis	GJB3	1555A>G
Epicophosis	SLC26A4	c.281C>T
Epicophosis	SLC26A4	c.589G > A
Epicophosis	SLC26A4	c.919-2A >G
Epicophosis	SLC26A4	c.1174A > T
Epicophosis	SLC26A4	c.1229C > T
Epicophosis	SLC26A4	c.1707+5 G>A
Epicophosis	SLC26A4	c.2027T > A
Epicophosis	SLC26A4	c.2168A > G
Epicophosis	SLC26A4	IVS7-2A>G
Epicophosis	SLC26A4	1226G>A
Epicophosis	SLC26A4	1975G>C
Epicophosis	SLC26A4	2162C>T
α-Thalassemia	HBA	（--SEA/）
α-Thalassemia	HBA	（-α4.2/）
α-Thalassemia	HBA	（-α3.7/）
α-Thalassemia	HBA	（--THAI/）
α-Thalassemia	HBA	WS122
α-Thalassemia	HBA	QS125
α-Thalassemia	HBA	CS142
β-Thalassemia	HBB	CD41-42(-CTTT)
β-Thalassemia	HBB	IVS-Ⅱ-654(C>T)
β-Thalassemia	HBB	CD17(AAG>TAG)
β-Thalassemia	HBB	-28（A>G)
β-Thalassemia	HBB	CD26(GAG>AAG)
β-Thalassemia	HBB	CD71-72(＋A)
β-Thalassemia	HBB	CD43(GAG>TAG)
β-Thalassemia	HBB	-29(A>G)
β-Thalassemia	HBB	Initiation codon (ATG>AGG)
β-Thalassemia	HBB	CD14-15(＋G)
β-Thalassemia	HBB	CD27/28(＋C)
β-Thalassemia	HBB	-32(C>A)
β-Thalassemia	HBB	-30(T>C)
β-Thalassemia	HBB	IVS-Ⅰ-1(G>T)
β-Thalassemia	HBB	IVS-Ⅰ-5 (G>C)
β-Thalassemia	HBB	CD31(-C)
β-Thalassemia	HBB	5′UTR Cap＋40-43-42(-AAAC)

Advantages of Ubigene's point mutation editing

01 Exclusive Red Cotton point mutation strategy designer, automatically offers at least 2 strategies in 1 minute.
02 Master four techniques (RNP method/plasmid antibiotic selection method/BE system/AAV-donor method) to deal with various mutation issues.
03 Fully optimized production system joins hands with the exclusive data analysis system and innovative products to significantly improve the screening efficiency of positive clones and shorten the project turnaround.

The c.G2149T point mutation of APP gene was carried out in iPSC by RNP method. After transfection, the recombination efficiency of the cell pool was detected. According to Sanger sequencing results, it can be seen that gRNA has a significant cleavage effect (Fig. 1). According to the analysis result by EZ-editorTM Genotyoe Analysis System (GAS), the homologous recombination genotype accounted for 14% (Fig. 2), which indicated that the efficiency was high, so single-cell clone isolation was next carried out.

Fig. 1 Sanger sequencing of cell pool

Fig. 2 EZ editorTM Genotyoe Analysis System (GAS) result

p.R140W mutation of IDH2 gene was carried out in THP-1 cell line by AAV-Donor method. After transfection, the recombination efficiency of the cell pool was detected. According to Sanger sequencing results, it can be seen that gRNA has a significant cleavage effect (Fig. 3). According to the analysis result by EZ-editorTM Genotyoe Analysis System (GAS), the homologous recombination genotype accounted for 23% (Fig. 4), which indicated that the efficiency was high, so single-cell clone isolation was next carried out. In the single-cell clone validation process, two mutant homozygotes were obtained. (Fig. 5)

Fig. 3 Sanger sequencing of cell pool

Fig. 4 EZ editorTM Genotyoe Analysis System (GAS) result

Fig. 5 Two mutant homozygotes genotype alignment result

AGTTCAAGCTGAAGAAGATGTGGAAAAGTCCCAATGGAACTATC(C→T)GGAACATCCT(G→C)GGGGGGACTGTCTTCCGGGAGCCCATCATCTGCAAAAACATCCCACGCCTAGTCCCTGGCTGGACCAAGCCCATCACCATTGGCAGGCACGCCCATGGCGACCAG

Red characters (C→T) indicate the target mutation site p.R140W (CGG > TGG).
Blue characters (G→C) indicate the silent mutation site (CTG>CTC).
File PK21115-02-A01-PK1344 is the Sanger sequencing result of E8 clone.
File PK21115-02-A03-PK1344 is the Sanger sequencing result of H3 clone.

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