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Cellosaurus WC021i-SMA-GM15 (CVCL_UB66)

[Text version]
Cell line name WC021i-SMA-GM15
Synonyms Contl-3
Accession CVCL_UB66
Resource Identification Initiative To cite this cell line use: WC021i-SMA-GM15 (RRID:CVCL_UB66)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=26190808).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F174 (GM03815)
Sex of cell Male
Age at sampling 32Y
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; wc021i-sma-gm15
Encyclopedic resources Wikidata; Q98134805
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9