• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Homozygous (Coriell=GM03395).
  

PubMed=7104995
Kinsella T.J., Mitchell J.B., McPherson S., Russo A., Tietze F.
In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions.
Cancer Res. 42:3950-3956(1982)

PubMed=6409440; DOI=10.1093/carcin/4.7.911
Smith P.J., Greene M.H., Adams D., Paterson M.C.
Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma.
Carcinogenesis 4:911-916(1983)

PubMed=6726265; DOI=10.1136/jnnp.47.4.391; PMCID=PMC1027781
Robbins J.H., Scudiero D.A., Otsuka F., Tarone R.E., Brumback R.A., Wirtschafter J.D., Polinsky R.J., Barrett S.F., Moshell A.N., Scarpinato R.G., Ganges M.B., Nee L.E., Meyer S.A., Clatterbuck B.E.
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
J. Neurol. Neurosurg. Psychiatry 47:391-398(1984)

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=11080496; DOI=10.1074/jbc.M006190200
Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D., Rodemann P.H., Lavin M.F.
Epidermal growth factor sensitizes cells to ionizing radiation by down-regulating protein mutated in ataxia-telangiectasia.
J. Biol. Chem. 276:8884-8891(2001)