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Cellosaurus CS21iHD60-n8 (CVCL_ZC83)

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Cell line name CS21iHD60-n8
Synonyms CS21iHD60n8
Accession CVCL_ZC83
Resource Identification Initiative To cite this cell line use: CS21iHD60-n8 (RRID:CVCL_ZC83)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Population: Caucasian.
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
Virginia B. Mattis, Colton Tom, Sergey Akimov, Jasmine Saeedian, Michael E. Ostergaard, Amber L. Southwell, Crystal N. Doty, Loren Ornelas, Anais Sahabian, Lindsay Lenaeus, Berhan Mandefro ...Show all 16 authors... , Dhruv Sareen, Jamshid Arjomand, Michael Reuben Hayden, Christopher A. Ross, Clive N. Svendsen; Show fewer authors
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)

Cross-references
Encyclopedic resources Wikidata; Q98125737
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8