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Cellosaurus WC022i-SMA-GM77 (CVCL_UB67)

[Text version]
Cell line name WC022i-SMA-GM77
Synonyms SMA-2
Accession CVCL_UB67
Resource Identification Initiative To cite this cell line use: WC022i-SMA-GM77 (RRID:CVCL_UB67)
Comments Population: Caucasian.
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 (PubMed=26190808).
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=26190808; DOI=10.1038/srep12189
Liu H.-S., Lu J.-F., Chen H., Du Z.-W., Li X.-J., Zhang S.-C.
Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.
Sci. Rep. 5:12189-12189(2015)

Cross-references
Cell line collections (Providers) WiCell; wc022i-sma-gm77
Encyclopedic resources Wikidata; Q98134807
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number8