MENKES DISEASE INDUCED PLURIPOTENT STEM CELL MODEL AND USE THEREOF

摘要

The present invention relates to an induced pluripotent stem cells (iPSCs) model induced by the Menkes disease, a preparation method thereof, and method for using the same to analyze the neurological development of the Menkes disease. More specifically, the present invention induces the generation and differentiation of iPSCs from the fibroblasts of Menkes disease patients, confirms the iPSCs and reimbursement bodies induced by the Menkes disease to show the abnormal cadherin switch process to the E-cadherin and N-cadherin to show little cell formation in the initial differentiation process and no differentiation to the neuroectodermal. The cadherin switch process is recovered in the Menkes disease induced iPSCs when copper is added. The iPSCs induced from the by the fibroblasts of the Menkes disease patients can be used as an effective cell model to check the symptoms of the Menkes disease according to the neurologic pathophysiology.