Analysis of protein coding mutations in hiPSCs and their possible role during somatic cell reprogramming

Recent studies indicate that human induced pluripotent stem cells (hiPSCs) contain genomic structural variations and point mutations in coding regions. However, these studies have focused on fibroblast-derived hiPSCs, and it is currently unknown whether the use of alternative somatic cell sources with varying reprogramming efficiencies would result in different levels of genetic alterations. Here we characterize the genomic integrity of eight hiPSC lines derived from five different non-fibroblast somatic cell types. We show that protein-coding mutations are a general feature of the hiPSC state and are independent of somatic cell source. Furthermore, we analyze a total of 17 point mutations found in hiPSCs and demonstrate that they do not generally facilitate the acquisition of pluripotency and thus are not likely to provide a selective advantage for reprogramming.