ID   AT58RM
AC   CVCL_XF30
SY   Ataxia Telangiectasia 58 RoMa
DR   Wikidata; Q93326380
RX   PubMed=10864201;
RX   PubMed=17124347;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (PubMed=10864201; PubMed=17124347).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp2708Asn (c.8122G>A); ClinVar=VCV000142791; Zygosity=Heterozygous (PubMed=10864201; 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: 06-09-19; Last updated: 19-12-24; Version: 11
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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).
//