• Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM07166).
  

PubMed=3337113; PMCID=PMC1715319
Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.
Am. J. Hum. Genet. 42:66-73(1988)

DOI=10.1007/978-1-4757-5016-4_9
Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M., Hoeijmakers J.H.J., Bootsma D.
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989)

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)

CLPUB00505
Komatsu K., Weemaes C.M.R., Smeets D.F.C.M., Oshimura M., Okumura Y.
Establishment of cell line derived from the patient with Nijmegen breakage syndrome and the genetic complementation with ataxia telangiectasia disease.
J. Radiat. Res. 34:320-320(1993)

PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9
Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i., Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(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)