Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts
M Kraakman-van der Zwet, WJI Overkamp… - Mutation Research/DNA …, 1999 - Elsevier
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal
instability disorder characterized by microcephaly, growth retardation, immunodeficiency
and a high incidence of malignancies. Cells from NBS patients are hypersensitive to ionizing
radiation (IR) and display radioresistant DNA synthesis (RDS). NBS is caused by mutations
in the NBS1 gene on chromosome 8q21 encoding a protein called nibrin. This protein is a
component of the hMre11/hRad50 protein complex, suggesting a defect in DNA double …
instability disorder characterized by microcephaly, growth retardation, immunodeficiency
and a high incidence of malignancies. Cells from NBS patients are hypersensitive to ionizing
radiation (IR) and display radioresistant DNA synthesis (RDS). NBS is caused by mutations
in the NBS1 gene on chromosome 8q21 encoding a protein called nibrin. This protein is a
component of the hMre11/hRad50 protein complex, suggesting a defect in DNA double …
