ID   786-O SAV1 clone 2
AC   CVCL_D6UV
SY   786-O SAV1-2
RX   PubMed=22185343;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9588; PTEN; Simple; p.Gln149Ter (c.445C>T); ClinVar=VCV000404164; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; c.560-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Pro278Ala (c.832C>G); ClinVar=VCV000376645; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 12687; VHL; Simple; p.Gly104Alafs*55 (c.311delG); Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 17795; SAV1.
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P0C2P0; Aspergillus terreus blasticidin-S deaminase (Bsd).
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
DI   NCIt; C9385; Renal cell carcinoma
DI   ORDO; Orphanet_217071; Renal cell carcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1051 ! 786-O
SX   Male
AG   58Y
CA   Cancer cell line
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
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RX   PubMed=22185343; DOI=10.1186/1471-2407-11-523; PMCID=PMC3292516;
RA   Matsuura K., Nakada C., Mashio M., Narimatsu T., Yoshimoto T.,
RA   Tanigawa M., Tsukamoto Y., Hijiya N., Takeuchi I., Nomura T., Sato F.,
RA   Mimata H., Seto M., Moriyama M.;
RT   "Downregulation of SAV1 plays a role in pathogenesis of high-grade
RT   clear cell renal cell carcinoma.";
RL   BMC Cancer 11:523.1-523.10(2011).
//