ID   HD180n
AC   CVCL_W583
DR   Wikidata; Q54882107
RX   PubMed=22748968;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from parent cell line).
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_W576 ! GM09197
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 12
//
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).
//