ID   iPSC carrier 2 line 11
AC   CVCL_Y960
SY   Carrier2 #11
DR   SKIP; SKIP000327
DR   Wikidata; Q54898210
RX   PubMed=23836290;
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=23836290).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_Y959 ! iPSC carrier 2 line 1
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 10
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RX   PubMed=23836290; DOI=10.1007/s00401-013-1149-y; PMCID=PMC3753484;
RA   Almeida S., Gascon E., Tran H., Chou H.J., Gendron T.F., DeGroot S.,
RA   Tapper A.R., Sellier C., Charlet-Berguerand N., Karydas A.M.,
RA   Seeley W.W., Boxer A.L., Petrucelli L., Miller B.L., Gao F.-B.;
RT   "Modeling key pathological features of frontotemporal dementia with
RT   C9ORF72 repeat expansion in iPSC-derived human neurons.";
RL   Acta Neuropathol. 126:385-399(2013).
//