ID   AT3LA LCL
AC   CVCL_M910
SY   Ataxia Telangiectasia 3 Los Angeles LCL; GM11261
DR   CLO; CLO_0025973
DR   BioSample; SAMN00800515
DR   Coriell; GM11261
DR   Wikidata; Q54844945
RX   PubMed=8808599;
RX   PubMed=9150358;
RX   PubMed=9168117;
RX   PubMed=16166284;
CC   Population: African American.
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)
OI   CVCL_B5ME ! AT3LA
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 17
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RX   PubMed=8808599; PMCID=PMC1914811;
RA   Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D.,
RA   Concannon P.;
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
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RX   PubMed=9150358; DOI=10.1038/sj.onc.1201037;
RA   Watters D., Khanna K.K., Beamish H.J., Birrell G.W., Spring K., Kedar P.,
RA   Gatei M., Stenzel D., Hobson K., Kozlov S.V., Zhang N., Farrell A.,
RA   Ramsay J., Gatti R.A., Lavin M.F.;
RT   "Cellular localisation of the ataxia-telangiectasia (ATM) gene product
RT   and discrimination between mutated and normal forms.";
RL   Oncogene 14:1911-1921(1997).
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RX   PubMed=9168117; DOI=10.1038/387520a0;
RA   Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S.V., Yen T.J.,
RA   Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y.,
RA   Kharbanda S., Kufe D.W., Lavin M.F.;
RT   "Interaction between ATM protein and c-Abl in response to DNA
RT   damage.";
RL   Nature 387:520-523(1997).
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RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//