Cell line name |
786-O SAV1 clone 1 |
Synonyms |
786-O SAV1-1 |
Accession |
CVCL_D6UU |
Resource Identification Initiative |
To cite this cell line use: 786-O SAV1 clone 1 (RRID:CVCL_D6UU) |
Comments |
Population: Caucasian. Genetic integration: Method=Transduction; Gene=HGNC; HGNC:17795; SAV1. Genetic integration: Method=Transduction; Gene=UniProtKB; P33967; Bacillus cereus Bsr. Derived from site: In situ; Kidney; UBERON=UBERON_0002113. |
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).
|
Disease |
Renal cell carcinoma (NCIt: C9385) Renal cell carcinoma (ORDO: Orphanet_217071) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Hierarchy |
Parent: CVCL_1051 (786-O) |
Sex of cell |
Male |
Age at sampling |
58Y |
Category |
Cancer cell line |
Publications | PubMed=22185343; DOI=10.1186/1471-2407-11-523; PMCID=PMC3292516 Keiko Matsuura, Chisato Nakada, Mizuho Mashio, Takahiro Narimatsu, Taichiro Yoshimoto, Masato Tanigawa, Yoshiyuki Tsukamoto, Naoki Hijiya, Ichiro Takeuchi, Takeo Nomura, Fuminori Sato ...Show all 14 authors... , Hiromitsu Mimata, Masao Seto, Masatsugu Moriyama; Show fewer authors Downregulation of SAV1 plays a role in pathogenesis of high-grade clear cell renal cell carcinoma. BMC Cancer 11:523.1-523.10(2011) |
Entry history |
Entry creation | 10-Sep-2024 |
Last entry update | 14-Aug-2025 |
Version number | 3 |
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