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Cellosaurus WC020i-SMA-GM14 (CVCL_UB65)

[Text version]
Cell line name WC020i-SMA-GM14
Synonyms Contl-2
Accession CVCL_UB65
Resource Identification Initiative To cite this cell line use: WC020i-SMA-GM14 (RRID:CVCL_UB65)
Comments 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; HGNC:11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=26190808).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F173 (GM03814)
Sex of cell Female
Age at sampling 30Y
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; wc020i-sma-gm14
Encyclopedic resources Wikidata; Q98134802
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10