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Cellosaurus CS83iCTR33-n1 (CVCL_IW28)

[Text version]
Cell line name CS83iCTR33-n1
Synonyms CS83iCTR-33n1; CS83iCTR33n1; 83i
Accession CVCL_IW28
Resource Identification Initiative To cite this cell line use: CS83iCTR33-n1 (RRID:CVCL_IW28)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Population: Caucasian.
Omics: Array-based CGH.
Omics: Chromatin accessibility by ATAC-seq.
Omics: Transcriptome analysis by RNAseq.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (from parent cell line).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W557 (GM02183)
Sex of cell Female
Age at sampling 21Y
Category Induced pluripotent stem cell
Publications

PubMed=25740845; DOI=10.1093/hmg/ddv080; PMCID=PMC4424959
Mattis V.B., Tom C., Akimov S., Saeedian J., Ostergaard M.E., Southwell A.L., Doty C.N., Ornelas L., Sahabian A., Lenaeus L., Mandefro B., Sareen D., Arjomand J., Hayden M.R., Ross C.A., Svendsen C.N.
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity.
Hum. Mol. Genet. 24:3257-3271(2015)

PubMed=26185257; DOI=10.5966/sctm.2015-0050; PMCID=PMC4542875
Hatada S., Subramanian A., Mandefro B., Ren S.-Y., Kim H.W., Tang J., Funari V., Baloh R.H., Sareen D., Arumugaswami V., Svendsen C.N.
Low-dose irradiation enhances gene targeting in human pluripotent stem cells.
Stem Cells Transl. Med. 4:998-1010(2015)

PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327
Molina-Ruiz F.J., Introna C., Bombau G., Galofre M., Canals J.M.
Standardization of cell culture conditions and routine genomic screening under a quality management system leads to reduced genomic instability in hPSCs.
Cells 11:1984.1-1984.25(2022)

Cross-references
Cell line databases/resources CLO; CLO_0037501
LINCS_LDP; LSC-1003
Encyclopedic resources Wikidata; Q54814555
Entry history
Entry creation03-Mar-2017
Last entry update29-Jun-2023
Version number17