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Table 3 List of Mutant Cell Lines Created by Genome Editting in HEK293T/17 Cell

From: Preparation of the standard cell lines for reference mutations in cancer gene-panels by genome editing in HEK 293 T/17 cells

Target Gene

Cell Clone Name (ID)

JCRB Cell ID

Mutation detaila

AKT1

49 G>A

293T-AKT1-1

delTG(43-44) Homo

293T-AKT1-2

49G>A(COSM33765)hetero+55insT&49G>A(COSM33765)Hetero

AKT3

232C>A

293T-AKT3-1

232C>A(COSM242892)Hetero+del231-238(8bp) Hetero+236delG&235T>A Hetero

293T-AKT3-2

232C>A(COSM242892)Hetero

ALK

3824 G>A

293T-ALK-1

3824G>A(COSM28056)Homo

293T-ALK-2

3824G>A(COSM28056)Hetero

BAP1

178 C>T

293T-BAP1-1

178C>T(COSM110721)Hetero

293T-BAP1-2

178C>T(COSM110721)Hetero&160-173(14bp) duplicate

BIM

585G>C

293T-BIM-1

585G>C(COSM389356)Homo+590 insTHetero

293T-BIM-2

585G>C(COSM389356)Hetero

BRAF

1817G>A

293T-BRAF-1

1817G>A(COSM1137)Hetero

293T-BRAF-2

1817G>A(COSM1137)Hetero

293T-BRAF-3

1817G>A(COSM1137)Hetero+1820delC&1817G>A(COSM1137)Hetero

293T-BRAF-4

1817G>A(COSM1137)Hetero+1811insG Hetero

293T-BRAF-5

1817G>A(COSM1137)Homo

CDKN2A

238 C>T

293T-CDKN2A-1

238C>T(COSM12475)Hetero

293T-CDKN2A-2

238C>T(COSM12475)Homo

CTNNB1

121 A>G

293T-CTNNB1-1

121A>G(COSM5664)Homo+del116-9&112G>A Hetero+del114-9 Hetero

293T-CTNNB1-2

121A>G(COSM5664)Homo

DNMT3A

2645 G>A

293T-DNMT3A-1

2643insC Homo

293T-DNMT3A-2

2645G>A(COSM52944)Hetero

ERBB3

310 G>A

293T-ERBB3-1

306insC Homo

293T-ERBB3-2

310G>A(COSM20710)Hetero

EZH2

1937 A>T

293T-EZH2-1

1937A>T(COSM37028)Homo+1831T>C Homo

293T-EZH2-2

1937A>T(COSM37028)Homo

FBXW7

1513 C>T

293T-FBXW7-1

1518insT Homo

293T-FBXW7-2

1518insT Hetero+1518insCA Hetero

FGFR3

746 C>G

293T-FGFR3-1

752insA Homo

293T-FGFR3-2

746C>G(COSM715)Hetero

HRAS

183 G>T

293T-HRAS-1

183G>T(COSM502)Homo

293T-HRAS-2

183G>T(COSM502)Hetero

IDH2

515 G>A

293T-IDH2-1

515G>A(COSM33733)Hetero+512G>A(COSM86960) Hetero

293T-IDH2-2

515G>A(COSM33733)Hetero

IGF2

293C>T

293T-IGF2-1

293C>T(COSM1561457)Hetero&del276-289(14bp)Hetero +294-295insCA+del270-283(14bp)Hetero

293T-IGF2-2

293C>T(COSM1561457)Hetero

JAK2

1849 G>T

293T-JAK2-1

1849G>T(COSM12600)Homo

293T-JAK2-2

1849G>T(COSM12600)Hetero

KIT

2447 A>T

293T-KIT-1

2447A>T(COSM1314)Homo

293T-KIT-2

2447A>T(COSM1314)Hetero

KNSTRN

71 C>T

293T-KNSTRN-1

71C>T(COSM140056) Homo

293T-KNSTRN-2

71C>T(COSM140056) &Del67-69(3bp) Homo

KRAS

35 G>A

293T-KRAS-1

32insC Homo+35G>A(COSM521)Hetero+del30-38(9bp) Hetero

293T-KRAS-2

35G>A(COSM521)Hetero+33delT Hetero

293T-KRAS-3

35G>A(COSM521)Hetero

293T-KRAS-4

35G>A(COSM521)&30-33AGCT>CGTA Hetero+32insC Hetero

293T-KRAS-5

35G>A(COSM521)&del20-34(15bp)Hetero+32insCC Hetero+32insC Hetero

MAGOH

410 T>C

293T-MAGOH-1

410T>C(COSM535605)Hetero

293T-MAGOH-2

410T>C(COSM535605)&407delT Hetero

MAP2K1

370 C>T

293T-MAP2K1-1

370C>T(COSM235614)Hetero+370C>T(COSM235614)Hetero&376insA hetero+358-377(20bp) duplicate Hetero

293T-MAP2K1-2

376insA Homo

MAPK1

964 G>A

293T-MAPK1-1

960insG Homo

293T-MAPK1-2

del962-968(7bp) Hetero+del962-969&4bp(12bp) Hetero+del926-969&69bp(113bp) Hetero

MDM2

994 C>T

293T-MDM2-1

995insG Homo

293T-MDM2-2

994C>T(COSM431747)Hetero

MET

3029 C>T

293T-MET-1

3029C>T(COSM707)Hetero

293T-MET-2

3029C>T(COSM707)Homo

MTOR

6644 C>A

293T-MTOR-1

6644C>A(COSM20417)Hetero

293T-MTOR-2

6644C>A(COSM20417)Homo

MYCN

1132 G>A

293T-MYCN-1

1132G>A(COSM229914)Homo

293T-MYCN-2

1132G>A(COSM229914)Hetero+1126delG Hetero

NOTCH1

4799 T>C

293T-NOTCH1-1

4799T>C(COSM12771)Hetero

293T-NOTCH1-2

4797insG Homo

NRAS

35 G>A

293T-NRAS-1

35G>A(COSM564)Homo

293T-NRAS-2

35G>A(COSM564)Homo

293T-NRAS-3

34G>T(COSM562)Hetero

293T-NRAS-4

35G>A(COSM564)Hetero+30-31AG>GAAA Hetero

293T-NRAS-5

35G>A(COSM564)Hetero+del30-44(15bp) Hetero

PDGFRA

2525 A>T

293T-PDGFRA-1

2525A>T(COSM736)Homo

293T-PDGFRA-2

2525A>T(COSM736)Hetero

PIK3CA

3140A>G

293T-PIK3CA-1

3140A>G(COSM775)Hetero+3143insA Hetero

293T-PIK3CA-2

3144T>G(COSM27157)Homo

293T-PIK3CA-3

3140A>G(COSM775)Hetero+del3131-42(12bp) Hetero

293T-PIK3CA-4

3140A>G(COSM775)Hetero

293T-PIK3CA-5

3140A>G(COSM775)Hetero+del3102-47(46bp) Hetero

PTEN

697 C>T

293T-PTEN-1

63-64 CG>(T,C,G)(T,C,G)(A,G) (ins 1bp for 3 alleles)

293T-PTEN-2

697C>T(COSM5154)Hetero

293T-PTEN-3

697C>T(COSM5154)Hetero+697insA Hetero+697-698CG>TT Hetero

293T-PTEN-4

697insGorA Hetero

293T-PTEN-5

697C>T(COSM5154)Hetero&Del 546-672(127bp)&546 5bp ins(535-539) & Del697-715(19bp) Hetero +WT

SMO

1234C>T

293T-SMO-1

1234C>T(COSM216037)Homo

293T-SMO-2

1234C>T(COSM216037)Hetero

STAT3

1919 A>T

293T-STAT3-1

1921insA Homo

293T-STAT3-2

1919A>T(COSM1155743)Hetero

TP53

743 G>A

293T-TP53-1

743G>A(COSM10662)Homo+746G>A(COSM44091)Homo

293T-TP53-2

743G>A(COSM10662)Hetero

293T-TP53-3

743G>A(COSM10662)Homo

293T-TP53-4

743G>A(COSM10662)Homo

293T-TP53-5

743G>A(COSM10662)&746delG Homo

  1. a& means mutations were found in the same strand, + for other cases