ID   GM13252
AC   CVCL_V141
DR   CLO; CLO_0013084
DR   BioSample; SAMN00802212
DR   Coriell; GM13252
DR   Wikidata; Q54846398
RX   PubMed=8493574;
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Ser168Cysfs*3 (c.501_502insTTGTCCGT) (8-nt insertion at nt 714); ClinVar=VCV000093329; Zygosity=Unspecified (PubMed=8493574).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3105; Von Hippel-Lindau syndrome
DI   ORDO; Orphanet_892; Von Hippel-Lindau disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=8493574; DOI=10.1126/science.8493574;
RA   Latif F., Tory K., Gnarra J.R., Yao M., Duh F.-M., Orcutt M.L.,
RA   Stackhouse T., Kuzmin I.A., Modi W., Geil L., Schmidt L.S., Zhou F.-W.,
RA   Li H., Wei M.H., Chen F., Glenn G., Choyke P., Walther M.M., Weng Y.-K.,
RA   Duan D.-S.R., Dean M., Glavac D., Richards F.M., Crossey P.A.,
RA   Ferguson-Smith M.A., Le Paslier D., Chumakov I., Cohen D.,
RA   Chinault A.C., Maher E.R., Linehan W.M., Zbar B., Lerman M.I.;
RT   "Identification of the von Hippel-Lindau disease tumor suppressor
RT   gene.";
RL   Science 260:1317-1320(1993).
//