Figure 1. FA-characteristic cellular phenotypes of cells from the proband.
(a) Number of cells (stimulated primary lymphocytes) with chromosomal breaks after addition of 150 and 300 nM MMC, from the proband (VU697) and his healthy sister (VU730); P value=0.0001 (χ2-test). (b) Spontaneous and MMC-induced chromosomal breakage in SV40-transformed fibroblasts from a healthy individual (LN9SV), a FANCA-deficient individual (GM6914), and the proband (VU697F_SV40); P value=0.005 (χ2-test). (c) Cell cycle distribution of SV40-transformed fibroblasts from a healthy individual (LN9SV) and from the proband without and with treatment of 50 or 100 nM MMC for 72 h. (d–f) Growth inhibition analysis of the proband's lymphoblast cells after treatment with DNA-damaging agents. Lymphoblast cell lines were assessed for sensitivity to MMC, camptothecin and PARP inhibitor, KU58948. VU697L is the proband's lymphoblast cell line, HSC93 is the wild-type control, VU867L is FANCM-deficient, VU423L is BRCA2-deficient and VU1354L is SLX4-deficient. Error bars indicate the s.d. from triplicate experiments.