ID   GM02173
AC   CVCL_V041
SY   GM-2173; GM 2173; GM02173A; GM02173B
DR   CLO; CLO_0031763
DR   BioSample; SAMN00807568
DR   Coriell; GM02173
DR   GEO; GSM1257685
DR   GEO; GSM1266970
DR   GEO; GSM1267050
DR   Wikidata; Q54837349
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6220707;
RX   PubMed=6458814;
RX   PubMed=24555846;
RX   PubMed=25326100;
RX   PubMed=25928884;
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 (PubMed=25928884).
CC   Omics: DNA methylation analysis.
CC   Omics: SNP array analysis.
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_V040 ! GM02172
SX   Female
AG   52Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
//
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=6458814; DOI=10.1073/pnas.78.10.6451; PMCID=PMC349057;
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).
//
RX   PubMed=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980;
RA   Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M.;
RT   "The relationship between DNA methylation, genetic and expression
RT   inter-individual variation in untransformed human fibroblasts.";
RL   Genome Biol. 15:R37.1-R37.17(2014).
//
RX   PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376;
RA   Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B.,
RA   Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H.,
RA   Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.;
RT   "Allelic expression mapping across cellular lineages to establish
RT   impact of non-coding SNPs.";
RL   Mol. Syst. Biol. 10:754-754(2014).
//
RX   PubMed=25928884; DOI=10.1186/s13024-015-0018-7; PMCID=PMC4411791;
RA   Evers M.M., Schut M.H., Pepers B.A., Atalar M., van Belzen M.J.,
RA   Faull R.L.M., Roos R.A.C., van Roon-Mom W.M.C.;
RT   "Making (anti-) sense out of huntingtin levels in Huntington
RT   disease.";
RL   Mol. Neurodegener. 10:21.1-21.11(2015).
//