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Cellosaurus WC023i-SMA-GM232 (CVCL_UB68)

[Text version]
Cell line name WC023i-SMA-GM232
Synonyms SMA-3
Accession CVCL_UB68
Resource Identification Initiative To cite this cell line use: WC023i-SMA-GM232 (RRID:CVCL_UB68)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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_Y965 (GM00232)
Sex of cell Male
Age at sampling 7M
Category Induced pluripotent stem cell
Publications

PubMed=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262
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; wc023i-sma-gm232
Encyclopedic resources Wikidata; Q98134809
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number8