Genomic analysis of hESC pedigrees identifies de novo mutations and enables determination of the timing and origin of mutational events.

ABSTRACT: Given the association between mutational load and cancer, the observation that genetic aberrations are frequently found in human pluripotent stem cells (hPSCs) is of concern. Prior studies in human induced pluripotent stem cells (hiPSCs) have shown that deletions and regions of loss of heterozygosity (LOH) tend to arise during reprogramming and early culture, whereas duplications more frequently occur during long-term culture. For the corresponding experiments in human embryonic stem cells (hESCs), we studied two sets of hESC lines: one including the corresponding parental DNA and the other generated from single blastomeres from four sibling embryos. Here, we show that genetic aberrations observed in hESCs can originate during preimplantation embryo development and/or early derivation. The

SUBMITTER: Ben-Yosef D 

PROVIDER: S-EPMC3894204 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature