| 摘要 |
The present invention relates to an induced pluripotent stem cell (iPSC) model of Noonan syndrome, a preparation method thereof, and uses to study of the pathogenesis of Noonan syndrome and a therapeutic agent screening method. Particularly, induced pluripotent stem cells from dermal fibroblasts of a Noonan syndrome-patient (NS-iPSCs) were generated, and differentiated into embryoid bodies (EBs), neural rosettes and neural cells. These iPSCs exhibited the normal morphology while showed reduced differentiation potency compare to control cell lines. NS-iPSCs were developed into embryoid bodies and neural rosettes by naturally and chemically directed differentiation. Interestingly, embryoid bodies and neural rosettes induced via chemically directed differentiation exhibited normal morphology and expressed ectoderm, neural rosettes and neural marker genes similar to normal cells. Thus, the cellular model can be useful in analytical research to understand pathogenesis of Noonan syndrome and establish screening method of the therapeutic agent. |
