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Cellosaurus CS52iALS-C9n1 (CVCL_W561)

[Text version]
Cell line name CS52iALS-C9n1
Synonyms CS52iALS-n1; 52iALS-n1
Accession CVCL_W561
Resource Identification Initiative To cite this cell line use: CS52iALS-C9n1 (RRID:CVCL_W561)
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:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24154603).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZD02 (F09152)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Web pages https://biomanufacturing.cedars-sinai.org/product/cs52ials-c9nxx/
Publications

PubMed=24154603; DOI=10.1126/scitranslmed.3007529; PMCID=PMC4090945
Sareen D., O'Rourke J.G., Meera P., Muhammad A.K.M.G., Grant S., Simpkinson M., Bell S., Carmona S., Ornelas L., Sahabian A., Gendron T.F., Petrucelli L., Baughn M., Ravits J., Harms M.B., Rigo F., Bennett C.F., Otis T.S., Svendsen C.N., Baloh R.H.
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Sci. Transl. Med. 5:208ra149.1-208ra149.13(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000323
Encyclopedic resources Wikidata; Q54814551
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number16