ID   ALS183
AC   CVCL_UF85
SY   fALS line 183
DR   Wikidata; Q93324331
RX   PubMed=24379375;
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24379375).
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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   51Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
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RX   PubMed=24379375; DOI=10.1073/pnas.1314085111; PMCID=PMC3896192;
RA   Meyer K., Ferraiuolo L., Miranda C.J., Likhite S., McElroy S.,
RA   Renusch S., Ditsworth D., Lagier-Tourenne C., Smith R.A., Ravits J.,
RA   Burghes A.H.M., Shaw P.J., Cleveland D.W., Kolb S.J., Kaspar B.K.;
RT   "Direct conversion of patient fibroblasts demonstrates non-cell
RT   autonomous toxicity of astrocytes to motor neurons in familial and
RT   sporadic ALS.";
RL   Proc. Natl. Acad. Sci. U.S.A. 111:829-832(2014).
//