ID   CS29iALS-C9n1
AC   CVCL_W559
SY   CS29iALS-n1N; 29iALS-n1
DR   CLO; CLO_0037504
DR   CLO; CLO_0037522
DR   LINCS_LDP; LSC-1006
DR   LINCS_LDP; LSC-1025
DR   SKIP; SKIP000321
DR   Wikidata; Q54814537
RX   PubMed=24154603;
WW   https://www.cedars-sinai.edu/Research/Research-Cores/Induced-Pluripotent-Stem-Cell-Core-/ALS-iPSC-Lines.aspx
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   Omics: Chromatin accessibility by ATAC-seq.
CC   Omics: Transcriptome analysis by RNAseq.
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_A9SR ! F09229
SX   Male
AG   47Y
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).
//