ID   AT24RM
AC   CVCL_WW18
SY   Ataxia Telangiectasia 24 RoMa
DR   Wikidata; Q93326289
RX   PubMed=8845835;
RX   PubMed=9244351;
RX   PubMed=17124347;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Cys252_Glu253delinsTer (c.756_757delTG) (p.Cys252Terfs); ClinVar=VCV000231178; Zygosity=Homozygous (PubMed=8845835).
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: 29-06-23; Version: 9
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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=9244351; DOI=10.1038/sj.onc.1201319;
RA   Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J.,
RA   Tsarfati I., Shiloh Y.;
RT   "Recombinant ATM protein complements the cellular A-T phenotype.";
RL   Oncogene 15:159-167(1997).
//
RX   PubMed=17124347; DOI=10.1155/2006/740493;
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).
//