ID   AT22RM
AC   CVCL_XY47
SY   Ataxia Telangiectasia 22 RoMa
DR   Wikidata; Q93326287
RX   PubMed=8845835;
RX   PubMed=9050866;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); 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: 19-12-19; Last updated: 19-12-24; Version: 9
//
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=9050866; DOI=10.1073/pnas.94.5.1840; PMCID=PMC20004;
RA   Brown K.D., Ziv Y., Sadanandan S.N., Chessa L., Collins F.S.,
RA   Shiloh Y., Tagle D.A.;
RT   "The ataxia-telangiectasia gene product, a constitutively expressed
RT   nuclear protein that is not up-regulated following genome damage.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:1840-1845(1997).
//