ID   Ubigene HCT 116 FRAT2 KO
AC   CVCL_D8LL
SY   FRAT2 Knockout cell line (HCT 116)
DR   Ubigene; YKO-HS2278
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:16048; FRAT2.
CC   Sequence variation: Mutation; HGNC; HGNC:173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ile2675Aspfs*6 (c.8021dupA) (c.8021_8022insA); ClinVar=VCV000267050; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Arg24Serfs*20 (c.68dupG) (c.68_69insG) (p.G23fs); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45del (c.133_135delTCT); ClinVar=VCV000017576; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3373; EP300; Simple; p.Met1470Cysfs*22 (c.4408delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3373; EP300; Simple; p.Asn1700Thrfs*9 (c.5099delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:6407; KRAS; Simple; p.Gly13Asp (c.38G>A); ClinVar=VCV000012580; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.His1047Arg (c.3140A>G); ClinVar=VCV000013652; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Leu450Ter (c.1349delT) (p.Leu450fs) (c.1344delT); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Colon; UBERON=UBERON_0001155.
DI   NCIt; C4910; Colon carcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0291 ! HCT 116
SX   Male
AG   48Y
CA   Cancer cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//