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Cellosaurus FG4003 (CVCL_ZT69)

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Cell line name FG4003
Accession CVCL_ZT69
Resource Identification Initiative To cite this cell line use: FG4003 (RRID:CVCL_ZT69)
Comments Cell type: Fibroblast; CL=CL_0000057.
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 Finite cell line
Publications

PubMed=15044383; DOI=10.1093/hmg/ddh122
Nuri Gueven, Olivier J. Becherel, Amanda W. Kijas, Philip Chen, Orla Howe, Jeanette H. Rudolph, Richard A. Gatti, Hidetoshi Date, Osamu Onodera, Gisela Taucher-Scholz, Martin Francis Lavin;
Aprataxin, a novel protein that protects against genotoxic stress.
Hum. Mol. Genet. 13:1081-1093(2004)

Cross-references
Encyclopedic resources Wikidata; Q98126025
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8