ID   GM13248
AC   CVCL_V137
DR   CLO; CLO_0013074
DR   BioSample; SAMN00802208
DR   Coriell; GM13248
DR   Wikidata; Q54846394
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Asn150Ilefs*9 (c.449delA); ClinVar=VCV000195093; Zygosity=Unspecified (Coriell=GM13248).
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   Adult
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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