ID   AT43RM
AC   CVCL_XF23
SY   Ataxia Telangiectasia 43 RoMa
DR   Wikidata; Q93326338
RX   PubMed=8845835;
RX   PubMed=10864201;
RX   PubMed=12105990;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); Zygosity=Homozygous (PubMed=8845835; PubMed=10864201; PubMed=12105990).
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=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2;
RA   Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y.,
RA   Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.;
RT   "Detection of ATM gene mutation in human glioma cell line M059J by a
RT   rapid frameshift/stop codon assay in yeast.";
RL   Radiat. Res. 158:195-201(2002).
//