Cellosaurus logo
expasy logo

Cellosaurus GM09677 (CVCL_W562)

[Text][XML][JSON]
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; 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
Richard A. Mulivor, Sharon F. Suchy;
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
Hui-Sheng Liu, Jian-Feng Lu, Hong Chen, Zhong-Wei Du, Xue-Jun Li, Su-Chun Zhang;
Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.
Sci. Rep. 5:12189.1-12189.13(2015)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas Owen Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wen-Lan Wang, William Mackenzie, Mena Scavina ...Show all 13 authors... , Katia Sol-Church, Matthew E.R. Butchbach; Show fewer authors
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 update19-Dec-2024
Version number19