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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
Amila Suraweera, Olivier J. Becherel, Philip Chen, Natalie Rundle, Robert Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser ...Show all 14 authors... , Bernd Epe, Nuri Gueven, Martin Francis Lavin; Show fewer authors
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