Table 2.
List of reports on modelling ASD and SCZ using 2D human iPSC-based systems.
| disorder | mutation | phenotypes described | reference |
|---|---|---|---|
| autism spectrum disorders | |||
| Rett syndrome (RTT) | MeCP2 (various mutations) | reduced dendritic spine density; altered electrophysiological properties; smaller soma size; alterations in Ca2+ influx; fewer synapses | Marchetto et al. [92] |
| Phelan–McDermid syndrome (PMDS) | deletions of approximately 1 Mb in chromosome 22 | defects in excitatory, but not inhibitory synaptic transmission | Shcheglovitov et al. [93] |
| fragile X syndrome (FXS) | FMR1 (CGG repeat lengths >200) | aberrant neural differentiation | Sheridan et al. [94] |
| FXS | FMR1 (CGG repeat lengths >435) | neurite outgrowth defects | Doers et al. [95] |
| FXS | FMR1 (236 CGG repeats) | impaired neuronal differentiation and function | Lu et al. [96] |
| FXS | FMR1 (150, 250 and 210 repeats) | aberrant neurogenic phenotypes | Boland et al. [97] |
| Timothy syndrome (TS) | CaV1.2 (c.1216G>A) | dendritic retraction | Krey et al. [98]; Tian et al. [99] |
| non-syndromic ASD | TRPC6 (t(3;11)(p21;q2 2)) | reduction in axonal length and dendritic arborization | Griesli-Oliveira et al. [100] |
| schizophrenia | |||
| schizophrenia (SCZ) | various copy number variants (CNVs) | diminished neuronal connectivity; decreased neurite number | Brennand et al. [101] |
| SCZ | various copy number variants (CNVs) | perturbations in cell adhesion molecules in neural progenitor stage | Brennand et al. [66] |
| SCZ | DISC1 (4 bp frameshift deletion) | altered neuronal morphology; glutamatergic synapse defects | Wen et al. [102] |
| SCZ | 15q11.2del | deficits in adherens junctions and apical polarity in iPSC-derived neural progenitors | Yoon et al. [103] |