ID   HD33i.2
AC   CVCL_W586
DR   Wikidata; Q54882116
RX   PubMed=22748968;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (from parent cell line).
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.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W557 ! GM02183
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 11
//
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).
//