ID   AT28RM
AC   CVCL_XF19
SY   Ataxia Telangiectasia 28 RoMa
DR   Wikidata; Q93326301
RX   PubMed=8845835;
RX   PubMed=10864201;
RX   PubMed=17124347;
RX   PubMed=25942615;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=10864201).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln2762Alafs*6 (c.8283_8284delTC); ClinVar=VCV000482713; Zygosity=Heterozygous (PubMed=10864201).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
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RX   PubMed=8845835; DOI=10.1093/hmg/5.4.433;
RA   Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K.,
RA   Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M.,
RA   Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A.,
RA   Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y.,
RA   Bar-Shira A.;
RT   "Predominance of null mutations in ataxia-telangiectasia.";
RL   Hum. Mol. Genet. 5:433-439(1996).
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RX   PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260;
RA   Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E.,
RA   Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L.,
RA   Pierotti M.A., Chessa L.;
RT   "ATM protein and p53-serine 15 phosphorylation in
RT   ataxia-telangiectasia (AT) patients and at heterozygotes.";
RL   Br. J. Cancer 82:1938-1945(2000).
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RX   PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285;
RA   Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C.,
RA   Lulli P., De Luca A., Dallapiccola B., Chessa L.;
RT   "DHPLC screening of ATM gene in Italian patients affected by
RT   ataxia-telangiectasia: fourteen novel ATM mutations.";
RL   Dis. Markers 22:257-264(2006).
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RX   PubMed=25942615; DOI=10.1016/j.mrfmmm.2015.04.009;
RA   Meschini R., Morucci E., Berni A., Lopez-Martinez W., Palitti F.;
RT   "Role of chromatin structure modulation by the histone deacetylase
RT   inhibitor trichostatin A on the radio-sensitivity of ataxia
RT   telangiectasia.";
RL   Mutat. Res. 777:52-59(2015).
//