Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases

Table 2 Disease modeling and drug testing of lysosomal storage disease induced pluripotent stem cells recorded in the literature

Disease	Species	Original cell type	Cell type of interest	Disease phenotype^a	Drug testing	References
Pompe disease	Mouse	Fibroblasts	Skeletal muscle cells	Glycogen accumulation	No	[9]
Pompe disease	Human	Fibroblasts	Cardiomyocytes	Glycogen storage and abnormal morphology and functions of mitochondria	Yes	[10]
Fabry disease	Mouse	Fibroblasts	Cardiomyocytes	Gb3 accumulation	No	[8]
Krabbe disease	Mouse	Fibroblasts	Neural stem cells	Reduced beta-galactocerebrosidase activity	No	[8]
Gaucher disease(type III)	Human	Fibroblasts	ND	ND	No	[7]
Hurler syndrome(MPS 1H)	Human	Keratinocytes and bone marrow mesenchymal stem cells	Hematopoietic cells	Lysosomal storage of glycosaminoglycans	No	[11]
MPS IIIB	Human	Fibroblasts	Neural stem cells and neurons	Storage vesicles associated with disorganized Golgi complex	Yes	[12]
MPS VII	Mouse	Fibroblasts	Unknown	Elevated levels of hyaluronic acid and impaired formation of embryoid bodies	No	[8]

^aExcept for the impaired embryoid body formation found in mucopolysaccharidosis (MPS) VII induced pluripotent stem cells (iPSCs), all lysosomal storage disease iPSC phenotypes have been reported in patient tissues or cells. Gb3, globotriaosylceramide; ND, not described.

ISSN: 1757-6512