ID   FD105
AC   CVCL_ZT72
DR   BTO; BTO_0006419
DR   Wikidata; Q98126009
RX   PubMed=15380105;
RX   PubMed=19303373;
RX   PubMed=19643912;
CC   Sequence variation: Mutation; HGNC; HGNC:15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (PubMed=15380105).
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)
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=15380105; DOI=10.1016/j.dnarep.2004.06.017;
RA   Clements P.M., Breslin C., Deeks E.D., Byrd P.J., Ju L.-M.,
RA   Bieganowski P., Brenner C., Moreira M.-C., Taylor A.M.R.,
RA   Caldecott K.W.;
RT   "The ataxia-oculomotor apraxia 1 gene product has a role distinct from
RT   ATM and interacts with the DNA strand break repair proteins XRCC1 and
RT   XRCC4.";
RL   DNA Repair 3:1493-1502(2004).
//
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).
//
RX   PubMed=19643912; DOI=10.1093/hmg/ddp359;
RA   Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J.,
RA   Lavin M.F.;
RT   "Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic
RT   endonuclease 1 (APE1) function together to protect the genome against
RT   oxidative damage.";
RL   Hum. Mol. Genet. 18:4102-4117(2009).
//