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Cellosaurus CS21iHD60-n5 (CVCL_ZC82)

[Text version]
Cell line name CS21iHD60-n5
Synonyms CS21iHD60n5; HD60n5
Accession CVCL_ZC82
Resource Identification Initiative To cite this cell line use: CS21iHD60-n5 (RRID:CVCL_ZC82)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[60] (c.52CAG(60)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; 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_F063 (GM03621)
Sex of cell Female
Age at sampling 29Y
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=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
Encyclopedic resources Wikidata; Q98125736
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9