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Cellosaurus iPSC carrier 2 line 11 (CVCL_Y960)

[Text version]
Cell line name iPSC carrier 2 line 11
Synonyms Carrier2 #11
Accession CVCL_Y960
Resource Identification Initiative To cite this cell line use: iPSC carrier 2 line 11 (RRID:CVCL_Y960)
Comments 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=23836290).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_Y959 ! iPSC carrier 2 line 1
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=23836290; DOI=10.1007/s00401-013-1149-y; PMCID=PMC3753484
Almeida S., Gascon E., Tran H., Chou H.J., Gendron T.F., DeGroot S., Tapper A.R., Sellier C., Charlet-Berguerand N., Karydas A.M., Seeley W.W., Boxer A.L., Petrucelli L., Miller B.L., Gao F.-B.
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Acta Neuropathol. 126:385-399(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000327
Encyclopedic resources Wikidata; Q54898210
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number10