• Mutation; HGNC; 795; ATM; Simple; p.Arg2136Ter (c.6404_6405insTT) (p.Leu2135_Arg2136insTer) (6404insTT); ClinVar=VCV000220763; Zygosity=Heterozygous (Coriell=GM01525).
  

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=837385
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(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)

PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9
Imray F.P., Kidson C.
Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

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

PubMed=1561323; DOI=10.2307/3578485
Pandita T.K., Hittelman W.N.
Initial chromosome damage but not DNA damage is greater in ataxia telangiectasia cells.
Radiat. Res. 130:94-103(1992)

PubMed=7539412; DOI=10.1002/ijc.2910610524
Pandita T.K., Hittelman W.N.
Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck.
Int. J. Cancer 61:738-743(1995)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)