• Mutation; HGNC; HGNC:795; ATM; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000187275; Zygosity=Unspecified (Coriell=GM01526).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Maimon Moses Cohen, Michal Sagi, Z. Ben-Zur, Tamar Schaap, Ruth Voss, Gertrude Kohn, Hannah Ben-Bassat;
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

PubMed=6228733; DOI=10.1016/0167-8817(83)90030-5
F. Paula Imray, Cheviot Kidson;
Perturbations of cell-cycle progression in gamma-irradiated ataxia telangiectasia and Huntington's disease cells detected by DNA flow cytometric analysis.
Mutat. Res. 112:369-382(1983)

PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0
Philip Chen, F. Paula Imray, Cheviot Kidson;
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations.
Mutat. Res. 129:165-172(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=1561323; DOI=10.2307/3578485
Tej K. Pandita, Walter N. Hittelman;
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
Tej K. Pandita, Walter N. Hittelman;
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
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

PubMed=29892436; DOI=10.1098/rsos.172472; PMCID=PMC5990783
Setsuko Shioda, Fumio Kasai, Ken Watanabe, Kohei Kawakami, Azusa Ohtani, Masashi Iemura, Midori Ozawa, Akemi Arakawa, Noriko Hirayama, Eiko Kawaguchi, Tomoko Tano ...Show all 15 authors... , Sayaka Miyata, Motonobu Satoh, Norio Shimizu, Arihiro Kohara; Show fewer authors
Screening for 15 pathogenic viruses in human cell lines registered at the JCRB Cell Bank: characterization of in vitro human cells by viral infection.
R. Soc. Open Sci. 5:172472-172472(2018)