| Cell line name |
HCT 116 TP53 (R248W/-) |
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| Synonyms |
TP53 (R248W/-) HCT116 |
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| Accession |
CVCL_RJ68 |
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| Resource Identification Initiative |
To cite this cell line use: HCT 116 TP53 (R248W/-) (RRID:CVCL_RJ68) |
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| 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. |
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| 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).
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| Disease |
Colon carcinoma (NCIt: C4910) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_0291 (HCT 116) |
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| Sex of cell |
Male |
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| Age at sampling |
48Y |
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| Category |
Cancer cell line |
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| 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Horizon_Discovery; HD+104-003
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| Cell line databases/resources |
cancercelllines; CVCL_RJ68
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| Encyclopedic resources |
Wikidata; Q54881986
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| Entry history |
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| Entry creation | 05-Mar-2018 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 12 |
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