| Cell line name |
786-O SAV1 clone 2 |
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| Synonyms |
786-O SAV1-2 |
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| Accession |
CVCL_D6UV |
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| Resource Identification Initiative |
To cite this cell line use: 786-O SAV1 clone 2 (RRID:CVCL_D6UV) |
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| Comments |
Population: Caucasian.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:17795; SAV1.
Genetic integration: Method=Transduction; Gene=UniProtKB; P33967; B.cereus Bsr.
Derived from site: In situ; Kidney; UBERON=UBERON_0002113. |
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| Sequence variations |
- Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Gln149Ter (c.445C>T); ClinVar=VCV000404164; Zygosity=Homozygous (from parent cell line).
- Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
- Mutation; HGNC; HGNC:11998; TP53; Simple; c.560-2A>G; ClinVar=VCV003148158; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
- Mutation; HGNC; HGNC:11998; TP53; Simple; p.Pro278Ala (c.832C>G); ClinVar=VCV000376645; Zygosity=Heterozygous (from parent cell line).
- Mutation; HGNC; HGNC:12687; VHL; Simple; p.Gly104Alafs*55 (c.311delG); Zygosity=Homozygous (from parent cell line).
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| Disease |
Renal cell carcinoma (NCIt: C9385)
Renal cell carcinoma (ORDO: Orphanet_217071) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_1051 (786-O) |
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| Sex of cell |
Male |
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| Age at sampling |
58Y |
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| Category |
Cancer cell line |
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| Publications | PubMed=22185343; DOI=10.1186/1471-2407-11-523; PMCID=PMC3292516
Matsuura K., Nakada C., Mashio M., Narimatsu T., Yoshimoto T., Tanigawa M., Tsukamoto Y., Hijiya N., Takeuchi I., Nomura T., Sato F., Mimata H., Seto M., Moriyama M.
Downregulation of SAV1 plays a role in pathogenesis of high-grade clear cell renal cell carcinoma.
BMC Cancer 11:523.1-523.10(2011) |
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| Entry history |
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| Entry creation | 10-Sep-2024 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 2 |
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