ID   FD104-m21
AC   CVCL_ZT71
DR   Wikidata; Q98126008
RX   PubMed=19303373;
CC   Sequence variation: Mutation; HGNC; HGNC:15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:15984; APTX.
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173401; Ataxia-oculomotor apraxia type 1
DI   ORDO; Orphanet_1168; Ataxia-oculomotor apraxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZT70 ! FD104
SX   Sex unspecified
AG   Age unspecified
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=19303373; DOI=10.1016/j.dnarep.2009.02.002; PMCID=PMC2693503;
RA   El-Khamisy S.F., Katyal S., Patel P., Ju L.-M., McKinnon P.J.,
RA   Caldecott K.W.;
RT   "Synergistic decrease of DNA single-strand break repair rates in mouse
RT   neural cells lacking both Tdp1 and aprataxin.";
RL   DNA Repair 8:760-766(2009).
//