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Cellosaurus GM13252 (CVCL_V141)

[Text version]
Cell line name GM13252
Accession CVCL_V141
Resource Identification Initiative To cite this cell line use: GM13252 (RRID:CVCL_V141)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12687; VHL; Simple; p.Ser168Cysfs*3 (c.501_502insTTGTCCGT) (8-nt insertion at nt 714); ClinVar=VCV000093329; Zygosity=Unspecified (PubMed=8493574).
Disease Von Hippel-Lindau syndrome (NCIt: C3105)
Von Hippel-Lindau disease (ORDO: Orphanet_892)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Transformed cell line
Publications

PubMed=8493574; DOI=10.1126/science.8493574
Latif F., Tory K., Gnarra J.R., Yao M., Duh F.-M., Orcutt M.L., Stackhouse T., Kuzmin I.A., Modi W., Geil L., Schmidt L.S., Zhou F.-W., Li H., Wei M.H., Chen F., Glenn G., Choyke P., Walther M.M., Weng Y.-K., Duan D.-S.R., Dean M., Glavac D., Richards F.M., Crossey P.A., Ferguson-Smith M.A., Le Paslier D., Chumakov I., Cohen D., Chinault A.C., Maher E.R., Linehan W.M., Zbar B., Lerman M.I.
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Science 260:1317-1320(1993)

Cross-references
Cell line collections (Providers) Coriell; GM13252
Cell line databases/resources CLO; CLO_0013084
Biological sample resources BioSample; SAMN00802212
Encyclopedic resources Wikidata; Q54846398
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13