ID   HCT 116 MLH1(+/-)
AC   CVCL_HD84
SY   MLH1 (+/-) HCT116; BVEC-E2; Bipartite Vector Exon 9 Corrected clone E2
DR   cancercelllines; CVCL_HD84
DR   Horizon_Discovery; HD+104-006
DR   Wikidata; Q54881964
RX   PubMed=17082796;
CC   Population: Caucasian.
CC   Characteristics: HCT 116 has a point mutation C755A in exon 9 of MLH1. This cell line is knockin by homologous recombination of the wild-type MLH1 in 1 of the 2 alleles.
CC   Knockout cell: Method=Homologous recombination; HGNC; HGNC:7127; MLH1 (Note=1 of 2 alleles).
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: 01-12-16; Last updated: 19-12-24; Version: 14
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RX   PubMed=17082796; DOI=10.1038/sj.cgt.7700997;
RA   Weiss, Michele B.
RA   Vitolo, Michele I.
RA   Baerenfaller, Katja
RA   Marra, Giancarlo
RA   Park, Ben Ho
RA   Bachman, Kurtis E.
RT   "Persistent mismatch repair deficiency following targeted correction
RT   of hMLH1.";
RL   Cancer Gene Ther. 14:98-104(2007).
//