ABSTRACT
BACKGROUND: Embryonic stem cells are pluripotent stem cells that can differentiate into all cell types and propagate themselves indefinitely in vitro, which have been used widely in biological research. OBJECTIVE: To summarize the culture methods of embryonic stem cells in vitro, as well as the significance, methods, clinical applications of embryonic stem cells as genetic disease models. METHODS: Relevant articles were searched in PubMed using the key words of "embryonic stem cell, genetic diseases" which appeared in the titles and abstracts. The latest articles were preferred. Totally 43 eligible articles were obtained for result analysis. RESULTS AND CONCLUSION: In the genetics study, embryonic stem cells have been widely used to construct monogenic and chromosome disease models, which can make up the limitations of animal and cell models. Models constructed by embryonic stem cells are conducive to the investigations on pathological processes and molecular mechanisms of genetic diseases. But there are also some ethic disputes on the use of embryonic stem cells, which need further studies.