ID   CS97iHD180-n1
AC   CVCL_ZD64
SY   CS97iHD180n1
DR   Wikidata; Q98125778
RX   PubMed=25740845;
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
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: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=25740845; DOI=10.1093/hmg/ddv080; PMCID=PMC4424959;
RA   Mattis V.B., Tom C., Akimov S., Saeedian J., Ostergaard M.E.,
RA   Southwell A.L., Doty C.N., Ornelas L., Sahabian A., Lenaeus L.,
RA   Mandefro B., Sareen D., Arjomand J., Hayden M.R., Ross C.A.,
RA   Svendsen C.N.;
RT   "HD iPSC-derived neural progenitors accumulate in culture and are
RT   susceptible to BDNF withdrawal due to glutamate toxicity.";
RL   Hum. Mol. Genet. 24:3257-3271(2015).
//