ID   GM04288
AC   CVCL_Y860
DR   CLO; CLO_0019640
DR   Coriell; GM04288
DR   Wikidata; Q54838470
RX   CelloPub=CLPUB00447;
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04287).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_Y859 ! GM04287
SX   Male
AG   43Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//