ID   GM04023
AC   CVCL_1H82
DR   CLO; CLO_0016248
DR   Coriell; GM04023
DR   Wikidata; Q54838372
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04022).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with Huntington disease but at 50% risk for disease.
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_1H81 ! GM04022
SX   Female
AG   28Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//