Table 2: Genetic neurodegenerative disorders modeled with iPSCs.

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

Spinal muscular atrophyMutation in SMN1 Neuronal cultures; motor neuronsYesYes
Familial dysautonomiaMutation in IKBKAP Cells of all three germ layers including peripheral neuronsYesYes
Amyotrophic lateral sclerosisMutation in SOD1 Motor neuronsNANo
Mutation in VAPB Motor neuronsYesNo
Mutation in TAP-43 Neurons and motor neurons Yes Yes
Huntington’s diseaseExcessive expansion of CAG repeat in Huntingtin geneNeuronal precursors, striatal neurons, astrocytesYesYes
Friedreich ataxiaGAA repeat expansion in the FXN gene Peripheral neurons and cardiomyocytesYesNo
Machado-Joseph diseaseExpansion of CAG repeats in the MJD1 (ATXN3) gene Neurons, fibroblasts and gliaYesYes
X-linked adrenoleuko-dystrophy Mutation in ABCD1 Oligodendrocytes and neuronsYesYes
Alzheimer’s diseaseMutations in PS1 and PS2 NeuronsYesYes
Duplication of APP Neurons Yes Yes
Parkinson’s diseaseMutation in LRRK2 Dopaminergic neuronsYesYes
Mutations in PINK1 Dopaminergic neuronsYesYes
Triplication of SNCA Dopaminergic neuronsYesYes
Mutation in PARKIN Dopaminergic neuronsYesYes