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Cellosaurus CS97iHD180-n1 (CVCL_ZD64)

[Text version]
Cell line name CS97iHD180-n1
Synonyms CS97iHD180n1
Accession CVCL_ZD64
Resource Identification Initiative To cite this cell line use: CS97iHD180-n1 (RRID:CVCL_ZD64)
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[179] (c.52CAG(179)) (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_W576 (GM09197)
Sex of cell Male
Age at sampling 6Y
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)

Cross-references
Encyclopedic resources Wikidata; Q98125778
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8