Induced Pluripotent Stem Cells to Model and Treat Neurogenetic Disorders

Table 1

Genetic neurodevelopmental disorders modeled with iPSCs.

Disease	Genetic defects	iPSC derived cell types	Disease phenocopied in iPSCs or differentiated cells	Drug or functional tests
Rett syndrome	Mutation in MECP2	Neurons; glutamatergic neurons	Yes	Yes
	Mutation in CDKL5	Neurons	NA	No
Fragile X syndrome	CGG triplet repeat expansion resulting in the silencing of FMR1	Neurons and glia	Yes	No
Down syndrome	Trisomy 21	Cortical neurons	Yes	Yes
Angelman syndrome	Lack of UBE3A expression due to genomic imprinting	Neurons	Yes	Yes
Prader-Willi syndrome	Lack of expression of genes in paternal chromosome region 15q11-q13 due to genomic imprinting	Tissues of the three germ layers, including neurons	NA	No
Timothy syndrome	Mutation in the L-type calcium channel Cav1.2	Neurons	Yes	Yes