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Cellosaurus CS52iALS-C9n1 (CVCL_W561)

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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)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
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 Provider; Cedars-Sinai; -; https://biomanufacturing.cedars-sinai.org/product/cs52ials-c9nxx/
Publications

PubMed=24154603; DOI=10.1126/scitranslmed.3007529; PMCID=PMC4090945
Dhruv Sareen, Jacqueline Gire O'Rourke, Pratap Meera, A.K.M.G. Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian, Tania F. Gendron ...Show all 20 authors... , Leonard Petrucelli, Michael Baughn, John Ravits, Matthew B. Harms, Frank Rigo, C. Frank Bennett, Thomas S. Otis, Clive N. Svendsen, Robert H. Baloh; Show fewer authors
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 update10-Apr-2025
Version number17