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Cellosaurus HCT 116 TP53 (R248W/-) (CVCL_RJ68)

[Text version]
Cell line name HCT 116 TP53 (R248W/-)
Synonyms TP53 (R248W/-) HCT116
Accession CVCL_RJ68
Resource Identification Initiative To cite this cell line use: HCT 116 TP53 (R248W/-) (RRID:CVCL_RJ68)
Comments Population: Caucasian.
Characteristics: Heterozygous knockin of a TP53 mutation.
Knockout cell: Method=Recombinant Adeno-Associated Virus; HGNC; HGNC:11998; TP53 (Note=1 of 2 alleles).
Derived from site: In situ; Colon; UBERON=UBERON_0001155.
Sequence variations
  • Mutation; HGNC; HGNC:173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ile2675Aspfs*6 (c.8021dupA) (c.8021_8022insA); ClinVar=VCV000267050; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Arg24Serfs*20 (c.68dupG) (c.68_69insG) (p.G23fs); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45del (c.133_135delTCT); ClinVar=VCV000017576; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3373; EP300; Simple; p.Met1470Cysfs*22 (c.4408delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3373; EP300; Simple; p.Asn1700Thrfs*9 (c.5099delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:6407; KRAS; Simple; p.Gly13Asp (c.38G>A); ClinVar=VCV000012580; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.His1047Arg (c.3140A>G); ClinVar=VCV000013652; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Leu450Ter (c.1349delT) (p.Leu450fs) (c.1344delT); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11998; TP53; Simple_edited; p.Arg248Trp (c.742C>T); ClinVar=VCV000012347; Zygosity=Hemizygous; Note=By method not specified (Horizon_Discovery=HD+104-003).
Disease Colon carcinoma (NCIt: C4910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0291 (HCT 116)
Sex of cell Male
Age at sampling 48Y
Category Cancer cell line
Publications

PubMed=19225112; DOI=10.1073/pnas.0813333106; PMCID=PMC2656188
Sur S., Pagliarini R., Bunz F., Rago C., Diaz L.A. Jr., Kinzler K.W., Vogelstein B., Papadopoulos N.
A panel of isogenic human cancer cells suggests a therapeutic approach for cancers with inactivated p53.
Proc. Natl. Acad. Sci. U.S.A. 106:3964-3969(2009)

Cross-references
Cell line collections (Providers) Horizon_Discovery; HD+104-003
Cell line databases/resources cancercelllines; CVCL_RJ68
Encyclopedic resources Wikidata; Q54881986
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12