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;
RX   PubMed=34746695;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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.
ST   Source(s): PubMed=34746695
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 14
ST   D16S539: 11
ST   D5S818: 11,12
ST   D7S820: 8,12
ST   TH01: 9,9.3
ST   TPOX: 8
ST   vWA: 16,19
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: 10-04-25; 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   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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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; PMCID=PMC3804072;
RG   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).
//
RX   PubMed=34746695; DOI=10.1016/j.isci.2021.103221; PMCID=PMC8554488;
RA   Li J., Lim R.G., Kaye J.A., Dardov V.J., Coyne A.N., Wu J., Milani P.,
RA   Cheng A., Thompson T.G., Ornelas L., Frank A., Adam M., Banuelos M.G.,
RA   Casale M., Cox V., Escalante-Chong R.A., Daigle J.G., Gomez E., Hayes L.,
RA   Holewenski R.J., Lei S., LeNail A., Lima L., Mandefro B., Matlock A.,
RA   Panther L., Patel-Murray N.L., Pham J.T., Ramamoorthy D., Sachs K.,
RA   Shelley B., Stocksdale J., Trost H., Wilhelm M., Venkatraman V.,
RA   Wassie B.T., Wyman S.K., Yang S., Van Eyk J.E., Lloyd T.E., Finkbeiner S.,
RA   Fraenkel E., Rothstein J.D., Sareen D., Svendsen C.N., Thompson L.M.;
RG   NeuroLINCS Consortium;
RG   NYGC ALS Consortium;
RT   "An integrated multi-omic analysis of iPSC-derived motor neurons from
RT   C9ORF72 ALS patients.";
RL   iScience 24:103221.1-103221.33(2021).
//