ID   ATH15BE LCL
AC   CVCL_F085
SY   ATH15Be LCL; Ataxia Telangiectasia Heterozygote 15 BEthesda LCL; GM03187; GM 3187; GM03187A
DR   CLO; CLO_0013412
DR   BioSample; SAMN00808280
DR   Coriell; GM03187
DR   Wikidata; Q54837913
RX   CelloPub=CLPUB00447;
RX   PubMed=6173245;
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=GM03187).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F084 ! ATH15BE
SX   Male
AG   40Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 18
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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).
//