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Cellosaurus CS77iSMA-n5 (CVCL_IW31)

[Text version]
Cell line name CS77iSMA-n5
Accession CVCL_IW31
Resource Identification Initiative To cite this cell line use: CS77iSMA-n5 (RRID:CVCL_IW31)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Population: Caucasian.
Omics: Chromatin accessibility by ATAC-seq.
Omics: Deep quantitative proteome analysis.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (from parent cell line).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W562 (GM09677)
Sex of cell Male
Age at sampling 1Y11M
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources CLO; CLO_0037509
LINCS_LDP; LSC-1012
Encyclopedic resources Wikidata; Q54814553
Entry history
Entry creation03-Mar-2017
Last entry update29-Jun-2023
Version number13