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

CLPUB00505
Kenshi Komatsu, Corry M.R. Weemaes, Dominique F.C.M. Smeets, Mitsuo Oshimura, Yutaka Okumura;
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
Junya Kobayashi, Hiroshi Tauchi, Shuichi Sakamoto, Asako Nakamura, Ken-ichi Morishima, Shinya Matsuura, Toshiko Kobayashi, Katsuyuki Tamai, Keiji Tanimoto, Kenshi Komatsu;
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(2002)

PubMed=24830725; DOI=10.1158/0008-5472.CAN-13-3037
Yuki Yamamoto, Mamiko Miyamoto, Daisuke Tatsuda, Michiaki Kubo, Hitoshi Nakagama, Yusuke Nakamura, Hitoshi Satoh, Koichi Matsuda, Toshiki Watanabe, Tsutomu Ohta;
A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability.
Cancer Res. 74:3707-3715(2014)

PubMed=27353471; DOI=10.1111/gtc.12387
Hiroyuki Yamasaki, Mamiko Miyamoto, Yuki Yamamoto, Tadashi Kondo, Toshiki Watanabe, Tsutomu Ohta;
Synovial sarcoma cell lines showed reduced DNA repair activity and sensitivity to a PARP inhibitor.
Genes Cells 21:852-860(2016)