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Cellosaurus 786-O SAV1 clone 1 (CVCL_D6UU)

[Text version]
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=Transfection/transduction; Gene=HGNC; 17795; SAV1.
Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P0C2P0; Aspergillus terreus blasticidin-S deaminase (Bsd).
Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
Sequence variations
  • Mutation; HGNC; 9588; PTEN; Simple; p.Gln149Ter (c.445C>T); ClinVar=VCV000404164; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; 11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
  • Mutation; HGNC; 11998; TP53; Simple; c.560-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  • Mutation; HGNC; 11998; TP53; Simple; p.Pro278Ala (c.832C>G); ClinVar=VCV000376645; Zygosity=Heterozygous (from parent cell line).
  • Mutation; 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
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)

Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1