| Cell line name |
HCT 116 SMAD4(-/-) |
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| Synonyms |
SMAD4 (-/-) HCT116; Smad-/- HCT116 |
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| Accession |
CVCL_HD95 |
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| Resource Identification Initiative |
To cite this cell line use: HCT 116 SMAD4(-/-) (RRID:CVCL_HD95) |
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| Comments |
Population: Caucasian.
Knockout cell: Method=Homologous recombination; HGNC; 6770; SMAD4.
Derived from site: In situ; Colon; UBERON=UBERON_0001155. |
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| 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; 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).
|
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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=9482899; DOI=10.1073/pnas.95.5.2412
Zhou S.-B., Buckhaults P., Zawel L., Bunz F., Riggins G.J., Dai J.-L., Kern S.E., Kinzler K.W., Vogelstein B.
Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells.
Proc. Natl. Acad. Sci. U.S.A. 95:2412-2416(1998) |
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| Cross-references |
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| Cell line collections (Providers) |
Horizon_Discovery; HD+104-005
|
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| Cell line databases/resources |
cancercelllines; CVCL_HD95
|
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| Encyclopedic resources |
Wikidata; Q54881984
|
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| Entry history |
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| Entry creation | 01-Dec-2016 |
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| Last entry update | 05-Oct-2023 |
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| Version number | 12 |
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