ID   GM03621
AC   CVCL_F063
SY   GM 3621
DR   CLO; CLO_0017192
DR   BioSample; SAMN00808472
DR   Coriell; GM03621
DR   Wikidata; Q54838162
RX   CelloPub=CLPUB00447;
RX   PubMed=6220707;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[70] (c.52CAG(70)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM03620).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F062 ! GM03620
SX   Female
AG   29Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 18
//
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).
//
RX   PubMed=6220707; DOI=10.1016/0006-291x(83)90361-3;
RA   Chua C.C., Geiman D.E., Ladda R.L.;
RT   "Detection of an Mr 200,000 glycoprotein in the culture medium of skin
RT   fibroblasts from patients with Huntington disease.";
RL   Biochem. Biophys. Res. Commun. 111:690-699(1983).
//