Cellosaurus cell line iPSC carrier 2 line 1 (CVCL

Cross-references
Cell line name	iPSC carrier 2 line 1
Synonyms	Carrier2 #1
Accession	CVCL_Y959
Resource Identification Initiative	To cite this cell line use: iPSC carrier 2 line 1 (RRID:CVCL_Y959)
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_Y960 ! iPSC carrier 2 line 11
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)
Cell line databases/resources	SKIP; SKIP000326
Encyclopedic resources	Wikidata; Q54898209
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	10