Cell engineering and genetic approaches to the development of models of human embryonic stem cells for studying genetic disorders

A novel approach to the establishment of genetically modified human embryonic stem cell (hESC) lines has been developed, and it has been shown that mutant hESC may be derived from affected embryos after preimplantation genetic diagnosis screening for a particular single gene disorder. Here we provide the description of embryo and cell manipulation procedures, diagnostic lay out, analysis of the efficiency of embryo development and hESC establishment, as well as developments for hESC derivation in animal free conditions. The high efficiency of the approach (50%) is especially crucial in the work with rare and unique resources, such as genetically screened embryos necessary for the derivation of hESC lines representative of specific genetic diseases.