ID   GM02165
AC   CVCL_F057
SY   GM-2165; GM 2165
DR   CLO; CLO_0031757
DR   BioSample; SAMN00807552
DR   Coriell; GM02165
DR   Wikidata; Q54837341
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6220707;
RX   PubMed=6458814;
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 GM02164).
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[56] (c.52CAG(56)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM02164).
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_F056 ! GM02164
SX   Male
AG   57Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 16
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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).
//
RX   PubMed=6458814; DOI=10.1073/pnas.78.10.6451;
RA   Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E.,
RA   Robbins J.H.;
RT   "Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in
RT   fibroblasts from patients with Huntington disease, familial
RT   dysautonomia, and other primary neuronal degenerations.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981).
//