Cellosaurus logo
expasy logo

Cellosaurus CS30iALS-C9n1 (CVCL_W560)

[Text version]
Cell line name CS30iALS-C9n1
Synonyms CS30iALS-C9nxx; CS30iALS-n1N; CS30iALS-n1A; 30iALS-n1
Accession CVCL_W560
Resource Identification Initiative To cite this cell line use: CS30iALS-C9n1 (RRID:CVCL_W560)
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; 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)
Originate from same individual CVCL_SA21 ! ND50074
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Web pages https://biomanufacturing.cedars-sinai.org/product/cs30ials-c9nxx/
Publications

PubMed=24154603; DOI=10.1126/scitranslmed.3007529
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 CLO; CLO_0037505
CLO; CLO_0037523
LINCS_LDP; LSC-1007
LINCS_LDP; LSC-1026
SKIP; SKIP000322
Encyclopedic resources Wikidata; Q54814548
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number15