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Cellosaurus 990RM (CVCL_XX67)

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Cell line name 990RM
Accession CVCL_XX67
Resource Identification Initiative To cite this cell line use: 990RM (RRID:CVCL_XX67)
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.6106+3393c.7101-22del20648bp/ins25 (Ex16-23del); Zygosity=Homozygous (PubMed=21112256).
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 Female
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=21112256; DOI=10.1016/j.dnarep.2010.10.012
Andrea De Amicis, Maria Piane, Francesca Ferrari, Maurizio Fanciulli, Domenico Delia, Luciana Chessa;
Role of senataxin in DNA damage and telomeric stability.
DNA Repair 10:199-209(2011)

Cross-references
Encyclopedic resources Wikidata; Q93310861
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8