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 changes(Xu et al. 2017) Immunodeficiency, centromeric instability, facial abnormalities (ICF) syndromeKnockout (DNMT3B)iPSCGene expression, DNA methylation changes(Horii et al. 2013)Other diseases Chronic granulomatous disease (CGD)Repair of intronic point mutation, exon 5 replacement (CYBB)PhagocytesOxidative burst function (ROS release)(Flynn et al. 2015; Sweeney et al. 2017) Duchenne muscular dystrophy (DMD)Exon skipping, frameshift, exon knock-in, deletion (Dystrophin)Skeletal muscleMembrane integrity, protein expression, electrical contraction (Ca overflow) changes(Li et al. 2015; Young et al. 2016) Barth syndromeKnockout (TAZ)CardiomyocytesMetabolic and structural changes in muscle, myocardial contraction defects(Wang et al. 2014a, b) Monocytic and dendritic cell immunodeficiencyKnockout (IRF8)Dendritic cellsDifferentiation, cytokine release, migration, antigen presentation(Sontag et al. 2017) β-thalassemiaCorrection of coding mutation (HBB)ErythroblastGene expression changes, hematopoietic differentiation, reactive oxygen species production(Niu et al. 2016; Song et al. 2015) Hemophilia AReversion of chromosomal inversionEndothelin cellsRestoration of factor VIII expression, rescue of lethality in mouse xenograft model(Park et al. 2015) Severe combined immunodeficiency (SCID)Repair of loss of function mutation (JAK3)T-cellsRestoration of correct T-cell development(Chang et al. 2015) Sickle Cell AnaemiaReversion of
