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Cellosaurus L136 (CVCL_ZT76)

[Text version]
Cell line name L136
Accession CVCL_ZT76
Resource Identification Initiative To cite this cell line use: L136 (RRID:CVCL_ZT76)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15984; APTX; Simple; p.Glu232Glyfs*38 (c.689dupT) (167insT) (689insT); ClinVar=VCV000004425; Zygosity=Heterozygous (PubMed=15044383).
  • Mutation; HGNC; HGNC:15984; APTX; Simple; p.Ser281Leufs*8 (c.841delT) (318delT) (840delT); ClinVar=VCV000004427; Zygosity=Heterozygous (PubMed=15044383).
Disease Ataxia-oculomotor apraxia type 1 (NCIt: C173401)
Ataxia-oculomotor apraxia type 1 (ORDO: Orphanet_1168)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Transformed cell line
Publications

PubMed=15044383; DOI=10.1093/hmg/ddh122
Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H., Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.
Aprataxin, a novel protein that protects against genotoxic stress.
Hum. Mol. Genet. 13:1081-1093(2004)

Cross-references
Encyclopedic resources Wikidata; Q98126841
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7