GM1 GANGLIOSIDOSIS HUMAN CELL MODEL AND USE THEREOF

摘要

The present invention relates to a producing method of a model cell based on a human cell model of GM1-gangliosidosis, induced pluripotent stem cells (iPSCs) thereof and iPSCs-derived neural progenitor cells; and a use of the GM1 model cell for the development of treatment of GM1-gangliosidosis. The iPSCs derived from fibroblasters of GM1 patients of the present invention can differentiate into a neural progenitor cell (NPC) and a neurosphere cell which exhibit the characteristics of GM1 patients. The cells can confirm the accumulation of GM1-gangliosidosis and lysosome in cells which is a symptom of GM1 and changes in the expression of gene effectively as the GM1 model cell, thereby being utilized effectively in research for pathogenesis analysis of GM1 and the development of treatment thereof. Additionally, it is confirmed that rhIL1RA or Z-YVAD-FMK which are inflammasome inhibitors are discovered by using the GM1 cell model and can be used to alleviate symptoms or treat the GM1-gangliosidosis.