ID   UW83iCTR-i.8
AC   CVCL_W565
SY   83iCTR
DR   Wikidata; Q54992389
RX   PubMed=22723941;
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=22723941; DOI=10.1371/journal.pone.0039113; PMCID=PMC3378532;
RA   Sareen D., Ebert A.D., Heins B.M., McGivern J.V., Ornelas L.,
RA   Svendsen C.N.;
RT   "Inhibition of apoptosis blocks human motor neuron cell death in a
RT   stem cell model of spinal muscular atrophy.";
RL   PLoS ONE 7:E39113-E39113(2012).
//