ID   GM09197
AC   CVCL_W576
DR   CLO; CLO_0010640
DR   BioSample; SAMN00798585
DR   Coriell; GM09197
DR   Wikidata; Q54843609
RX   CelloPub=CLPUB00447;
RX   PubMed=25732146;
RX   PubMed=25928884;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
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)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 14
//
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   PubMed=25732146; DOI=10.2174/1566524015666150303110300;
RA   Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N.,
RA   Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M.,
RA   Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A.,
RA   Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H.,
RA   Valle D.L., O'Donnell P., Sawa A., Kai M.;
RT   "Clinical utility of neuronal cells directly converted from
RT   fibroblasts of patients for neuropsychiatric disorders: studies of
RT   lysosomal storage diseases and channelopathy.";
RL   Curr. Mol. Med. 15:138-145(2015).
//
RX   PubMed=25928884; DOI=10.1186/s13024-015-0018-7;
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).
//