ID   990RM
AC   CVCL_XX67
DR   Wikidata; Q93310861
RX   PubMed=21112256;
CC   Sequence variation: Mutation; HGNC; HGNC:445; SETX; Simple; c.6106+3393c.7101-22del20648bp/ins25 (Ex16-23del); Zygosity=Homozygous (PubMed=21112256).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165500; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
DI   ORDO; Orphanet_64753; Spinocerebellar ataxia with axonal neuropathy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=21112256; DOI=10.1016/j.dnarep.2010.10.012;
RA   De Amicis A., Piane M., Ferrari F., Fanciulli M., Delia D., Chessa L.;
RT   "Role of senataxin in DNA damage and telomeric stability.";
RL   DNA Repair 10:199-209(2011).
//