ID   AT4BE LCL
AC   CVCL_7377
SY   AT4Be LCL; Ataxia Telangiectasia 4 BEthesda LCL; GM03189; GM-03189; GM 3189; GM3189; GM03189B; GM03189D; GM3189D
DR   CLO; CLO_0013410
DR   BioSample; SAMN00808282
DR   Coriell; GM03189
DR   GEO; GSM1116569
DR   GEO; GSM1116570
DR   GEO; GSM1116637
DR   GEO; GSM1116638
DR   GEO; GSM1116639
DR   GEO; GSM1116640
DR   Wikidata; Q54837925
RX   CelloPub=CLPUB00447;
RX   PubMed=6173245;
RX   PubMed=8808599;
RX   PubMed=16166284;
RX   PubMed=16874298;
RX   PubMed=23943852;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03189).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03189).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis by microarray.
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_F083 ! AT4BE
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 25
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6173245; DOI=10.1016/0014-4827(82)90040-4;
RA   Kohn P.H., Kraemer K.H., Buchanan J.K.;
RT   "Influence of ataxia telangiectasia gene dosage on bleomycin-induced
RT   chromosome breakage and inhibition of replication in human
RT   lymphoblastoid cell lines.";
RL   Exp. Cell Res. 137:387-395(1982).
//
RX   PubMed=8808599;
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).
//
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).
//
RX   PubMed=16874298; DOI=10.1038/sj.emboj.7601255;
RA   Goodarzi A.A., Yu Y.-P., Riballo E., Douglas P., Walker S.A., Ye R.-Q.,
RA   Harer C., Marchetti C., Morrice N., Jeggo P.A., Lees-Miller S.P.;
RT   "DNA-PK autophosphorylation facilitates Artemis endonuclease
RT   activity.";
RL   EMBO J. 25:3880-3889(2006).
//
RX   PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013;
RA   Zhang L.-W., Simpson D.A., Innes C.L., Chou J., Bushel P.R.,
RA   Paules R.S., Kaufmann W.K., Zhou T.;
RT   "Gene expression signatures but not cell cycle checkpoint functions
RT   distinguish AT carriers from normal individuals.";
RL   Physiol. Genomics 45:907-916(2013).
//