ID   AT96RM
AC   CVCL_XY11
SY   Ataxia Telangiectasia 96 RoMa
DR   Wikidata; Q93326507
RX   PubMed=17124347;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser1037Serfs*2 (c.3111delT); Zygosity=Heterozygous (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).
//