| 摘要 |
The present invention relates to an induced pluripotent stem cell (iPSC) model of Noonan syndrome, a preparation method therefor, and uses to be used in the study of the pathogenesis of Noonan syndrome and in a therapeutic agent screening method. Particularly, generation and differentiation of induced pluripotent stem cells (iPSCs) derived from Noonan syndrome, embryoid bodies (EB), and neural rosettes were induced from fibroblasts from a patient with Noonan syndrome and it was ascertained that iPSCs derived from Noonan syndrome exhibit the morphology and differentiation potency of normal iPSCs. In addition, as a result of inducing natural differentiation and chemical differentiation in order to differentiate iPSCs derived from Noonan syndrome into embryoid bodies and neural rosettes, embryoid bodies and neural rosettes induced via chemical differentiation exhibit cell morphology similar to that of normal cells and significantly express ectoderm, neural rosette, and neuron marker genes. Thus, the cellular model can be useful in analytical research for the pathogenesis of Noonan syndrome and in analytical research for the therapeutic agent screening method. |
