@article{oai:repo.qst.go.jp:00048804,
 author = {Yoshihara, Masahito and Araki, Ryoko and Kasama, Yasuji and Sunayama, Misato and Abe, Masumi and Nishida, Kohji and Kawaji, Hideya and Hayashizaki, Yoshihide and Murakawa, Yasuhiro and 荒木 良子 and 笠間 康次 and 砂山 美里 and 安倍 真澄},
 issue = {2},
 journal = {Cell reports},
 month = {Oct},
 note = {Induced pluripotent stem cells (iPSCs) are generated by direct reprogramming of somatic cells and hold great promise for novel therapies. However, several studies have reported genetic variations in iPSC genomes. Here, we investigated point mutations identified by whole-genome sequencing in mouse and human iPSCs in the context of epigenetic status. In contrast to disease-causing single-nucleotide polymorphisms, de novo point mutations introduced during reprogramming were underrepresented in protein-coding genes and in open chromatin regions, including transcription factor binding sites. Instead, these mutations occurred preferentially in structurally condensed lamina-associated heterochromatic domains, suggesting that chromatin organization is a factor that can bias the regional mutation rate in iPSC genomes. Mutation signature analysis implicated oxidative stress associated with reprogramming as a likely cause of point mutations. Altogether, our study provides deeper understanding of the mutational landscape of iPSC genomes, paving an important way toward the translation of iPSC-based cell therapy},
 pages = {308--315},
 title = {Hotspots of De Novo Point Mutations in Induced Pluripotent Stem Cells},
 volume = {21},
 year = {2017}
}