Segmental chromosomal imbalances arise at high frequency in human fibroblasts (S1_S2)

Preservation of a balanced chromosomal content is regarded to be a key point for the success of multicellular organisms. Chromosomal segregation takes place under the strict control of well-orchestrated cell-cycle checkpoints, consequently leading to accurate transmission of intact chromosomes. Estimates of the whole chromosomal error rates per cell division based on cytogenetic analyses of newborns and products of conception, range between 4.57x10-5 and 3.42x10-4. Recent sporadic studies of single cell genome wide CNV analysis suggested that the error rate might be higher than currently estimated. To obtain accurate measures of chromosomal error rates, we plated single fibroblast and analyzed the two daughter sister cells following a single cell division. In total 14 single fibroblasts derived from 7 mitoses carried segmental aneuploidies in a total of 178 cells from 5 different cell lines that were analyzed after a single cell division, indicating a mean frequency of 7.9% in vitro. In conclusion, the chromosomal stability is hundreds times lower than the current dogma, showing that chromosomal instability is a common place and putting the efficacy of the DNA-repair mechanisms and control checkpoints in question. Here we provide a sample set including a series of MDA whole genome amplified in vitro cultured single primary fibroblasts of two siblings, 'S1' and 'S2', and genomic DNA samples isolated from peripheral blood of two siblings 'S2' and 'S3' (identical tween of S1), the mother and father of these siblings. Single cells WGAed by two different kits [GenomiphiV2 (GE Healthcare) and RepliG-sc (Qiagen)] are available.