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Cellosaurus SETX-1RM (CVCL_ZT66)

[Text version]
Cell line name SETX-1RM
Accession CVCL_ZT66
Resource Identification Initiative To cite this cell line use: SETX-1RM (RRID:CVCL_ZT66)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:445; SETX; Unexplicit; Ex14-21del; Zygosity=Homozygous (PubMed=17562789).
Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (NCIt: C165500)
Spinocerebellar ataxia with axonal neuropathy type 2 (ORDO: Orphanet_64753)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358
Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R., Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M., Epe B., Gueven N., Lavin M.F.
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
J. Cell Biol. 177:969-979(2007)

Cross-references
Encyclopedic resources Wikidata; Q98132447
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7