ID   CS21iHD60-n5
AC   CVCL_ZC82
SY   CS21iHD60n5; HD60n5
DR   Wikidata; Q98125736
RX   PubMed=25740845;
RX   PubMed=35805069;
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[60] (c.52CAG(60)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from parent cell line).
CC   Omics: Array-based CGH.
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_F063 ! GM03621
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 8
//
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).
//
RX   PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327;
RA   Molina-Ruiz F.J., Introna C., Bombau G., Galofre M., Canals J.M.;
RT   "Standardization of cell culture conditions and routine genomic
RT   screening under a quality management system leads to reduced genomic
RT   instability in hPSCs.";
RL   Cells 11:1984.1-1984.25(2022).
//