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Cellosaurus FD104-m21 (CVCL_ZT71)

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Cell line name FD104-m21
Accession CVCL_ZT71
Resource Identification Initiative To cite this cell line use: FD104-m21 (RRID:CVCL_ZT71)
Comments Genetic integration: Method=Transfection; Gene=HGNC; HGNC:15984; APTX.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (from parent cell line).
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)
Hierarchy Parent: CVCL_ZT70 (FD104)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Telomerase immortalized cell line
Publications

PubMed=19303373; DOI=10.1016/j.dnarep.2009.02.002; PMCID=PMC2693503
Sherif Faruk El-Khamisy, Sachin Katyal, Poorvi Patel, Li-Mei Ju, Peter J. McKinnon, Keith W. Caldecott;
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
DNA Repair 8:760-766(2009)

Cross-references
Encyclopedic resources Wikidata; Q98126008
Entry history
Entry creation02-Jul-2020
Last entry update10-Apr-2025
Version number9