| Cell line name |
HCT 116 PIK3CA (H1047R/-) |
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| Synonyms |
PIK3CA (H1047R/-) HCT116 |
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| Accession |
CVCL_LD54 |
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| Resource Identification Initiative |
To cite this cell line use: HCT 116 PIK3CA (H1047R/-) (RRID:CVCL_LD54) |
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| Comments |
Population: Caucasian.
Characteristics: Knockout of PIK3CA wildtype allele in heterozygous parental cells (PubMed=15950905).
Knockout cell: Method=Homologous recombination; HGNC; HGNC:8975; PIK3CA (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=Hemizygous (PubMed=15950905).
- Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
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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=15950905; DOI=10.1016/j.ccr.2005.05.014
Samuels Y., Diaz L.A. Jr., Schmidt-Kittler O., Cummins J.M., DeLong L., Cheong I., Rago C., Huso D.L., Lengauer C., Kinzler K.W., Vogelstein B., Velculescu V.E.
Mutant PIK3CA promotes cell growth and invasion of human cancer cells.
Cancer Cell 7:561-573(2005) |
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| Cross-references |
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| Cell line collections (Providers) |
Horizon_Discovery; HD+104-012
|
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| Cell line databases/resources |
cancercelllines; CVCL_LD54
|
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| Encyclopedic resources |
Wikidata; Q54881974
|
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| Entry history |
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| Entry creation | 22-Aug-2017 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 14 |
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