Human cell model of gm1 gangliosidosis and use of same

The present invention relates to a human cell model of GM1 gangliosidosis, induced pluripotent stem cells (iPSCs) thereof, a method for preparing model cells based on neural progenitor cells derived from the iPSCs, and a use for the GM1 model cells in the development of a therapeutic agent for GM1 gangliosidosis. According to the present invention, the iPSCs derived from fibroblasts of a GM1 patient may be differentiated into neurosphere cells and neural progenitor cells (NPCs), which reproduce characteristics exhibited in a GM1 patient, so that the cells are GM1 model cells, which allow symptoms of GM1 (i.e. intracellular accumulation of GM1 ganglioside and lysosome) and changes in gene expression patterns to be effectively identified. Accordingly, the iPSCs may be useful in studies for developing a therapeutic agent and for analyzing an onset mechanism of GM1. In addition, by using the GM1 cell model of the present invention, rhIL1RA or Z-YVAD-FMK, i.e., inflammation regulatory complex inhibitor, is discovered and identified as an available therapeutic agent/alleviating agent for symptoms of GM1 gangliosidosis. Further, according to the present invention, since transformant cells showing an E186A mutation, which has been newly discovered as a causative protein mutation of GM1 gangliosidosis, can reproduce a molecular symptom of GM1 patients, mutant cells including the E186A mutation derived therefrom may be useful as a GM1 gangliosidosis cell model.