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Cellosaurus GM09677 (CVCL_W562)

[Text version]
Cell line name GM09677
Accession CVCL_W562
Resource Identification Initiative To cite this cell line use: GM09677 (RRID:CVCL_W562)
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 (Coriell=GM09677).
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 Children:
CVCL_IW31 (CS77iSMA-n5)CVCL_RY51 (ND50072)CVCL_W563 (UW77iSMA-e.x)
CVCL_UB67 (WC022i-SMA-GM77)
Sex of cell Male
Age at sampling 1Y11M
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W., Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W., Scavina M., Sol-Church K., Butchbach M.E.R.
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Mol. Genet. Genomic Med. 3:248-257(2015)

Cross-references
Cell line collections (Providers) Coriell; GM09677
Cell line databases/resources CLO; CLO_0026536
CLO; CLO_0037422
LINCS_LDP; LPC-1023
Encyclopedic resources Wikidata; Q54843945
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number18