Related Patent Info
INDUCED PLURIPOTENT STEM CELL MODEL FOR CARDIOFACIOCUTANEOUS SYNDROME AND USES THEREOF
| Inventor | HAN, Yong-mahn etc. |
|---|---|
| Assignee | KOREA ADVANCED INSTITUTE OF SCIENCE AND TECHNOLOGY |
| Title of Invention | INDUCED PLURIPOTENT STEM CELL MODEL FOR CARDIOFACIOCUTANEOUS SYNDROME AND USES THEREOF |
| Abstract | The present invention relates to an induced pluripotent stem cell (iPS) model for cardiofaciocutaneous (CFC) syndrome, a method for producing the model, and uses in the analysis of neural development in CFC syndrome using the iPS model. Specifically, the CFC syndrome-derived iPS and generation and differentiation of an embryoid body were induced from the fibroblasts of a CFC syndrome patient, and the CFC syndrome-derived iPS and embryoid body were confirmed to exhibit broken embryoid body shapes and no differentiation into neurons, and when a CFC syndrome-derived embryoid body was induced by treating with p-ERK and p-SMAD1 inhibitors, the embryoid body exhibited a normal embryoid body shape and effectively differentiated into neurons, thus CFC syndrome patient-derived stem cell model can be effectively used in the research for neural development in cardiofaciocutaneous syndrome. |