ID   CS52iALS-C9n1
AC   CVCL_W561
SY   CS52iALS-n1; 52iALS-n1
DR   SKIP; SKIP000323
DR   Wikidata; Q54814551
RX   PubMed=24154603;
WW   https://biomanufacturing.cedars-sinai.org/product/cs52ials-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)
HI   CVCL_ZD02 ! F09152
SX   Male
AG   49Y
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).
//