ID   ATH16BE LCL
AC   CVCL_F087
SY   ATH16Be LCL; Ataxia Telangiectasia Heterozygote 16 BEthesda LCL; GM03188; GM 3188; GM03188A
DR   CLO; CLO_0013413
DR   BioSample; SAMN00808281
DR   Coriell; GM03188
DR   GEO; GSM1116563
DR   GEO; GSM1116564
DR   GEO; GSM1116605
DR   GEO; GSM1116606
DR   GEO; GSM1116607
DR   GEO; GSM1116608
DR   Wikidata; Q54837923
RX   CelloPub=CLPUB00447;
RX   PubMed=6173245;
RX   PubMed=23943852;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03188).
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.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F086 ! ATH16BE
SX   Female
AG   36Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 19
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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).
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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).
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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).
//