Cellosaurus cell line SETX-2RM (CVCL

Cellosaurus SETX-2RM (CVCL_ZT67)

Cross-references
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 Nuri Gueven, Olivier J. Becherel, Orla Howe, Pin-Jhen Chen, Jean-Francois Haince, Marie-Eve Ouellet, Guy G. Poirier, Nigel Waterhouse, Markus Fusser, Bernd Epe, Josiane Menissier-de Murcia ...Show all 17 authors... , Gilbert de Murcia, Clare H. McGowan, Robert G. Parton, Carmel Mothersill, Padraic J. Grattan-Smith, Martin Francis Lavin; Show fewer authors 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 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)
Encyclopedic resources	Wikidata; Q98132448
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7