Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells

Reprogramming human somatic cells into induced pluripotent stem cells (iPSC) has been suspected of causing de novo copy number variations (CNVs). To explore this issue, we performed a whole-genome and transcriptome analysis of 20 human iPSC lines derived from primary skin fibroblasts of 7 individuals using next-generation sequencing. Prior to this CNV study, the human iPSC lines and one hES (H1) were characterized by a set of quality control criteria, including gene expression analyses by microarray. This analysis demonstrated uniform up-regulation of hESC-specific genes in all our hiPSC lines, while fibroblast specific genes were downregulated Total RNA obtained from iPSC lines and H1 line was submitted for microarray analysis using HumanHT-12 v4 BEADCHIP (Illumina).