ID   AT41RM
AC   CVCL_WW19
SY   Ataxia Telangiectasia 41 RoMa
DR   Wikidata; Q93326336
RX   PubMed=8845835;
RX   PubMed=9244351;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu2904Gly (c.8711A>G); ClinVar=VCV000186276; Zygosity=Homozygous (PubMed=8845835; PubMed=9244351).
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=9244351; DOI=10.1038/sj.onc.1201319;
RA   Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J.,
RA   Tsarfaty I., Shiloh Y.;
RT   "Recombinant ATM protein complements the cellular A-T phenotype.";
RL   Oncogene 15:159-167(1997).
//