• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg35Ter (c.103C>T); ClinVar=VCV000003025; Zygosity=Homozygous (Coriell=GM02052).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=761484; DOI=10.1159/000131301
Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G., Ben-Bassat H.
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=11313956; DOI=10.1038/sj.onc.1204072
Wood L.D., Halvorsen T.L., Dhar S., Baur J.A., Pandita R.K., Wright W.E., Hande M.P., Calaf G., Hei T.K., Levine F., Shay J.W., Wang J.J.Y., Pandita T.K.
Characterization of ataxia telangiectasia fibroblasts with extended life-span through telomerase expression.
Oncogene 20:278-288(2001)

PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882
Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S., Cordeiro-Stone M., Kaufmann W.K.
An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage.
Mol. Cell. Biol. 22:8552-8561(2002)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H.
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)