ID   AT97RM
AC   CVCL_XX48
SY   Ataxia Telangiectasia 97 RoMa
DR   Wikidata; Q93326509
RX   PubMed=17124347;
RX   PubMed=25942615;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Phe239Leufs*15 (c.717_720delCCTC); ClinVar=VCV000142709; Zygosity=Homozygous (PubMed=17124347).
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: 19-12-19; Last updated: 19-12-24; Version: 9
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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).
//
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).
//