착상 전 유전진단으로 획득된 비정상 배아를 이용한 유전질환 인간 배아줄기세포 수립 연구 동향 = Current Studies for Preimpalntation Genetic Diagnosis Derived Human Embryonic Stem Cells Carrying Mutations for Genetic Disorders

다국어 초록 (Multilingual Abstract)

Human embryonic stem cells (hESCs) are derived from the inner cell mass (rCM) of blastocyst embryos. They are established from surplus embryos that have been obtained by in vitro fertilization (IVF) and donated for research purposes. The rCM-derived cell lines have two unique properties, they can be propagated indefinitely in culture and have the potential to develop into any cell type in vivo and in vitro. Human ESCs carrying specific mutations can be used as a powerful tool for studying genetic disorders in human. One preferable approach for obtaining these cell lines is their derivation from affected preimplanration genetic diagnosed (PGD) embryos. These unique cells are important for modeling human genetic disorders for which there are no suitable research models. They can be further used to gain new insights into developmentally regulated events that occur during human embryo development and that are responsible for the manifestation of genetically inherited disorders. In this review, we will introduce a current state of the studies for PGD-derived hESCs carrying mutation for genetic disorders that have great potential for the investigation of new therapeutic protocols, including gene-therapy-based treatments and disease-oriented drug screening and discovery.