ID   CS30iALS-C9n1
AC   CVCL_W560
SY   CS30iALS-C9nxx; CS30iALS-n1N; CS30iALS-n1A; 30iALS-n1
DR   CLO; CLO_0037505
DR   CLO; CLO_0037523
DR   LINCS_LDP; LSC-1007
DR   LINCS_LDP; LSC-1026
DR   SKIP; SKIP000322
DR   Wikidata; Q54814548
RX   PubMed=24154603;
WW   https://biomanufacturing.cedars-sinai.org/product/cs30ials-c9nxx/
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24154603).
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)
OI   CVCL_SA21 ! ND50074
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
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RX   PubMed=24154603; DOI=10.1126/scitranslmed.3007529; PMCID=PMC4090945;
RA   Sareen D., O'Rourke J.G., Meera P., Muhammad A.K.M.G., Grant S.,
RA   Simpkinson M., Bell S., Carmona S., Ornelas L., Sahabian A.,
RA   Gendron T.F., Petrucelli L., Baughn M., Ravits J., Harms M.B., Rigo F.,
RA   Bennett C.F., Otis T.S., Svendsen C.N., Baloh R.H.;
RT   "Targeting RNA foci in iPSC-derived motor neurons from ALS patients
RT   with a C9ORF72 repeat expansion.";
RL   Sci. Transl. Med. 5:208ra149.1-208ra149.13(2013).
//