ID   HD-iPS1
AC   CVCL_D078
SY   HD-IPS1; HD1-iPS1
DR   ISCR; 26
DR   Wikidata; Q54882083
RX   PubMed=18691744;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[71] (c.52CAG(71)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=18691744).
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)
HI   CVCL_8519 ! GM04281
SX   Female
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 16
//
RX   PubMed=18691744; DOI=10.1016/j.cell.2008.07.041;
RA   Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A.,
RA   Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.;
RT   "Disease-specific induced pluripotent stem cells.";
RL   Cell 134:877-886(2008).
//