ID   HCT 116 DNMT1(-/-)
AC   CVCL_E5EU
SY   HCT116 DNMT1 (Delta exons3-5/Delta exons3-5); MT1KO; HCT-116 DNMT1-/-
DR   Horizon_Discovery; HD+R02-020
RX   PubMed=10801130;
RX   PubMed=11932749;
RX   PubMed=12915469;
CC   Population: Caucasian.
CC   Knockout cell: Method=Homologous recombination; HGNC; HGNC:2976; DNMT1.
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: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=10801130; DOI=10.1038/35010000;
RA   Rhee I.P., Jair K.-W., Yen R.-W.C., Lengauer C., Herman J.G.,
RA   Kinzler K.W., Vogelstein B., Baylin S.B., Schuebel K.E.;
RT   "CpG methylation is maintained in human cancer cells lacking DNMT1.";
RL   Nature 404:1003-1007(2000).
//
RX   PubMed=11932749; DOI=10.1038/416552a;
RA   Rhee I.P., Bachman K.E., Park B.H., Jair K.-W., Yen R.-W.C.,
RA   Schuebel K.E., Cui H.-M., Feinberg A.P., Lengauer C., Kinzler K.W.,
RA   Baylin S.B., Vogelstein B.;
RT   "DNMT1 and DNMT3b cooperate to silence genes in human cancer cells.";
RL   Nature 416:552-556(2002).
//
RX   PubMed=12915469; DOI=10.1093/hmg/ddg226;
RA   Paz M.F., Wei S., Cigudosa J.C., Rodriguez-Perales S., Peinado M.A.,
RA   Huang T.H.-M., Esteller M.;
RT   "Genetic unmasking of epigenetically silenced tumor suppressor genes
RT   in colon cancer cells deficient in DNA methyltransferases.";
RL   Hum. Mol. Genet. 12:2209-2219(2003).
//