ID   GM02183
AC   CVCL_W557
SY   GM-2183; GM 2183; GM2183
DR   CLO; CLO_0031788
DR   CLO; CLO_0037414
DR   BioSample; SAMN00807584
DR   Coriell; GM02183
DR   LINCS_LDP; LPC-1015
DR   Wikidata; Q54837357
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6220707;
RX   PubMed=22748968;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (PubMed=22748968).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
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_W556 ! GM02182
SX   Female
AG   21Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 02-05-24; 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=22748968; DOI=10.1016/j.stem.2012.04.027;
RG   The HD iPSC consortium;
RT   "Induced pluripotent stem cells from patients with Huntington's
RT   disease show CAG-repeat-expansion-associated phenotypes.";
RL   Cell Stem Cell 11:264-278(2012).
//