Table 1iPSC disease models employing isogenic control lines generated by CRISPR/Cas9. The table lists a number of diseases, the mutation that was reverted or introduced, the differentiated cell type analysed and the molecular or cellular phenotypes observedDiseaseEditingCell typePhenotypeReferencesNeurological disorders Fragile X syndromeRemoval of triplet repeat (FMR1)NPC neuronsDNA methylation, gene expression changes(Boland et al. 2017; Xie et al. 2016) Tetrahydrobiopterin metabolism disorder, Parkinson’s diseaseCorrection of dopamine synthesis (PHPS, DHPR)DA neuronsMetabolic (dopamine, BH4), protein expression changes(Ishikawa et al. 2016) Parkinson’s disease (PD)Correction of coding point mutations (SNCA)Cortical neuronsAccumulation of ER-associated degradation substrates(Chung et al. 2013; Soldner et al. 2011)Correction of coding mutation (LRRK2)Dopaminergic neuronsGene expression changes(Reinhardt et al. 2013) Alzheimer’s disease (AD)Point mutations (APP, PSEN1)Cortical neuronsProtein (Aβ) secretion(Paquet et al. 2016) Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)Correction of point mutationsSpinal motor neuronsProteasome impairment(Murakami et al. 2017) Frontotemporal lobar degeneration tauopathy (FTLD-Tau)Correction of intronic or exonic point mutation (MAPT)NeuronsAccumulation and release of misfolded tau, cell death, electrical stimulation of calcium transients(Imamura et al. 2016) Huntington disease (HD)Correction of expanded CAG repeat (HTT)Forebrain neuronsNeural rosette formation, mitochondrial respiration, gene expression
