ID   CS77iSMA-n5
AC   CVCL_IW31
DR   CLO; CLO_0037509
DR   LINCS_LDP; LSC-1012
DR   Wikidata; Q54814553
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (from parent cell line).
CC   Omics: Genomics; Chromatin accessibility; ATAC-seq.
CC   Omics: Proteomics; Quantitative.
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W562 ! GM09677
SX   Male
AG   1Y11M
CA   Induced pluripotent stem cell
DT   Created: 03-03-17; Last updated: 10-04-25; Version: 15
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