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Cellosaurus UW77iSMA-e.x (CVCL_W563)

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Cell line name UW77iSMA-e.x
Synonyms 77iSMA
Accession CVCL_W563
Resource Identification Initiative To cite this cell line use: UW77iSMA-e.x (RRID:CVCL_W563)
Comments Population: Caucasian.
Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 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
Publications

PubMed=22723941; DOI=10.1371/journal.pone.0039113; PMCID=PMC3378532
Dhruv Sareen, Allison D. Ebert, Brittany M. Heins, Jered V. McGivern, Loren Ornelas, Clive N. Svendsen;
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.
PLoS ONE 7:e39113.1-e39113.11(2012)

Cross-references
Cell line databases/resources SKIP; SKIP000318
Encyclopedic resources Wikidata; Q54992387
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number14