2014 年 34 巻 2 号 p. 087-093
The discovery of induced pluripotent stem (iPS) cells have opened the doors for further disease research, drug screening, as well as regenerative medicine. To achieve clinical application of iPS cells, it is important to select proper iPS cell lines that do not harbor the risk of tumorigenicity. Thus, it is desired to establish methodologies for evaluating the safety of iPS cells, particularly in terms of genome integrity. Massively parallel sequencing can be used to monitor genomic aberrations such as the subchromosomal and the single nucleotide variations. Refined mutation analyses of iPS and founder cells revealed that some of the iPS cell-specific variations were also detected in rare populations of the founder cells by consequence of capturing the heterogeneity of the founder cells. In this review, we highlight recent analyses used to evaluate the genome integrity of iPS cells, discuss future of directions for precise assessment of the safety of iPS cells, and address issues that should be overcome.