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Cellosaurus WC019i-SMA-GM13 (CVCL_UB64)

[Text version]
Cell line name WC019i-SMA-GM13
Synonyms SMA-1
Accession CVCL_UB64
Resource Identification Initiative To cite this cell line use: WC019i-SMA-GM13 (RRID:CVCL_UB64)
Comments Problematic cell line: Misclassified. Parent cell line originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2).
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM16143).
  • Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=26190808).
Disease Spinal muscular atrophy type 2 (NCIt: C156310)
Proximal spinal muscular atrophy type 2 (ORDO: Orphanet_83418)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F172 (GM03813)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell

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)

Cell line collections (Providers) WiCell; wc019i-sma-gm13
Encyclopedic resources Wikidata; Q98134799
Entry history
Entry creation13-Nov-2018
Last entry update30-Jan-2024
Version number9