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Cellosaurus SETX-2RM (CVCL_ZT67)

[Text version]
Cell line name SETX-2RM
Accession CVCL_ZT67
Resource Identification Initiative To cite this cell line use: SETX-2RM (RRID:CVCL_ZT67)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:445; SETX; Simple; c.7287+5G>A (IVS23+5G>A); 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 Transformed cell line
Publications

PubMed=17347666; DOI=10.1038/sj.cdd.4402116
Gueven N., Becherel O.J., Howe O., Chen P.-J., Haince J.-F., Ouellet M.-E., Poirier G.G., Waterhouse N., Fusser M., Epe B., Menissier-de Murcia J., de Murcia G., McGowan C.H., Parton R.G., Mothersill C., Grattan-Smith P.J., Lavin M.F.
A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance.
Cell Death Differ. 14:1149-1161(2007)

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; Q98132448
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7