Table 1: Genetic neurodevelopmental disorders modeled with iPSCs.

DiseaseGenetic defectsiPSC derived cell typesDisease phenocopied in iPSCs or differentiated cellsDrug or functional tests

Rett syndromeMutation in MECP2 Neurons; glutamatergic neuronsYesYes
Mutation in CDKL5 NeuronsNANo
Fragile X syndromeCGG triplet repeat expansion resulting in the silencing of FMR1 Neurons and glia Yes No
Down syndromeTrisomy 21 Cortical neuronsYesYes
Angelman syndromeLack of UBE3A expression due to genomic imprinting NeuronsYesYes
Prader-Willi syndromeLack 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 syndromeMutation in the L-type calcium channel 1.2 Neurons Yes Yes