• Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03487).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03487).
  

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=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=11172010; DOI=10.1073/pnas.98.4.1676; PMCID=PMC29316
Peretz S., Jensen R.B., Baserga R., Glazer P.M.
ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response.
Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001)

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)