ID   AT57RM
AC   CVCL_XF29
SY   Ataxia Telangiectasia 57 RoMa
DR   Wikidata; Q93326378
RX   PubMed=8845835;
RX   PubMed=10864201;
RX   PubMed=17124347;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser151Terfs (c.450_453delTTCT); Zygosity=Heterozygous (PubMed=8845835; PubMed=10864201; PubMed=17124347).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); Zygosity=Heterozygous (PubMed=8845835; 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: 10
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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).
//
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).
//