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Cellosaurus GM13252 (CVCL_V141)

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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
Farida Latif, Kalman Tory, James R. Gnarra, Masahiro Yao, Fuh-Mei Duh, Mary Lou Orcutt, Thomas Stackhouse, Igor A. Kuzmin, William S. Modi, Laura Geil, Laura S. Schmidt ...Show all 33 authors... , Fang-Wei Zhou, Hua Li, Ming Hui Wei, Fan Chen, Gladys Glenn, Peter L. Choyke, McClellan Milton Walther, Yong-Kai Weng, Dah-Shuhn R. Duan, Michael Dean, Damjan Glavac, Frances M. Richards, Paul A. Crossey, Malcolm Andrew Ferguson-Smith, Denis Le Paslier, Ilya Chumakov, Daniel Cohen, Alan Craig Chinault, Eamonn R. Maher, William Marston Linehan, Berton Zbar, Michael I. Lerman; Show fewer authors
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