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Cellosaurus HCT 116 NOTCH1 (L1601P/+) (CVCL_LD99)

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Cell line name HCT 116 NOTCH1 (L1601P/+)
Synonyms NOTCH1 (L1601P/+) HCT116
Accession CVCL_LD99
Resource Identification Initiative To cite this cell line use: HCT 116 NOTCH1 (L1601P/+) (RRID:CVCL_LD99)
Comments Population: Caucasian.
Characteristics: Heterozygous knockin of a NOTCH1 activating mutation.
Derived from site: In situ; Colon; UBERON=UBERON_0001155.
Sequence variations
  • Mutation; HGNC; 173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; 1101; BRCA2; Simple; p.Ile2675Aspfs*6 (c.8021dupA) (c.8021_8022insA); ClinVar=VCV000267050; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 1787; CDKN2A; Simple; p.Arg24Serfs*20 (c.68dupG) (c.68_69insG) (p.G23fs); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 2514; CTNNB1; Simple; p.Ser45del (c.133_135delTCT); ClinVar=VCV000017576; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 3373; EP300; Simple; p.Met1470Cysfs*22 (c.4408delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 3373; EP300; Simple; p.Asn1700Thrfs*9 (c.5099delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 6407; KRAS; Simple; p.Gly13Asp (c.38G>A); ClinVar=VCV000012580; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 7881; NOTCH1; Simple_edited; p.Leu1600Pro (c.4799T>C); Zygosity=Heterozygous; Note=By method not specified (Horizon_Discovery=HD+104-027).
  • Mutation; HGNC; 8975; PIK3CA; Simple; p.His1047Arg (c.3140A>G); ClinVar=VCV000013652; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 9277; PPM1D; Simple; p.Leu450Ter (c.1349delT) (p.Leu450fs) (c.1344delT); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
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
Cross-references
Cell line collections (Providers) Horizon_Discovery; HD+104-027
Cell line databases/resources cancercelllines; CVCL_LD99
Encyclopedic resources Wikidata; Q54881971
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number12