ID   CS83iCTR33-n1
AC   CVCL_IW28
SY   CS83iCTR-33n1; CS83iCTR33n1; 83i
DR   CLO; CLO_0037501
DR   LINCS_LDP; LSC-1003
DR   Wikidata; Q54814555
RX   PubMed=25740845;
RX   PubMed=26185257;
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[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (from parent cell line).
CC   Omics: Array-based CGH.
CC   Omics: Chromatin accessibility by ATAC-seq.
CC   Omics: Transcriptome analysis by RNAseq.
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: 03-03-17; Last updated: 29-06-23; Version: 17
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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).
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RX   PubMed=26185257; DOI=10.5966/sctm.2015-0050; PMCID=PMC4542875;
RA   Hatada S., Subramanian A., Mandefro B., Ren S.-Y., Kim H.W., Tang J.,
RA   Funari V., Baloh R.H., Sareen D., Arumugaswami V., Svendsen C.N.;
RT   "Low-dose irradiation enhances gene targeting in human pluripotent
RT   stem cells.";
RL   Stem Cells Transl. Med. 4:998-1010(2015).
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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).
//