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 1.2 Neurons Yes Yes