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| Author, publication date | Modeled disease(s) | Main findings | Cell line, differentiation protocol | Patient derived cell lines | Free
full text |
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| Ananiev et al., 2011 [11] | Rett syndrome | Neurons exhibit smaller nuclear size | Differentiated glutamatergic neurons | Y (3) | Y |
|
| Bavamian et al., 2015 [12] | BPD | miR-34a is associated with BPD and neurodevelopment | NPCs | Y (1) | N |
|
| Belinsky et al., 2014 [13] | Neurodevelopment | Electrophysiology and gene expression during neural maturation | Differentiated glutamatergic neurons | Y (1) | Y |
|
| Boissart et al., 2013 [14] | Psychopharmacology, ASD | Synchronous production of cortical neurons for high-throughput assays | Glutamatergic cortical neurons | Y (2) | Y |
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| Brennand et al., 2011 [15] | SCZ | Diminished connectivity, cAMP and WNT signaling rescued by antipsychotic treatment | Panneuronal differentiation protocol, glutamatergic neurons | Y (4) | Y |
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| Brennand et al., 2015 [16] | SCZ | Altered migration, mitochondrial damage, and increased oxidative stress | NPCs, panneuronal differentiation | Y (4) | Y |
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| Brick et al., 2014 [17] | ASD | iPSC bank from ASD patients and controls | Differentiated glutamatergic neurons | Y
(cell bank) | Y |
|
| Bundo et al., 2014 [18] | SCZ | LINE retroelements show more activity in SCZ derived cells | Differentiated glutamatergic neurons | Y (3) | Y |
|
| Chen et al., 2014 [19] | BPD | BPD iNCs exhibit Ca-signaling and neurodevelopment associated transcription alterations | Differentiated neurons (mixed glutamatergic-GABAergic populations) | Y (3) | Y |
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| Chen et al., 2013 [20] | SCZ, BPD | Transcriptional effects of zinc finger protein 804A silencing | Differentiated glutamatergic neurons | N | Y |
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| Cheung et al., 2011 [21] | Rett syndrome | Generation of MECP2 mutant iPSC/iNC lines and their isogenic pairs | Differentiated glutamatergic neurons | Y (1) | Y |
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| Chiang et al., 2011 [22] | SCZ | Introduction of an integration-free method for reprogramming | iPSCs | Y (2) | Y |
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| Corrales et al., 2012 [23] | SCZ | Copy number variations in iPSCs, iNCs | NPCs | Y | N |
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| Dage et al., 2014 [24] | Psychopharmacology, ASD | Pharmacological and transcriptome characterization of iNCs | Forebrain neurons | N | N |
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| DeRosa et al., 2012 [25] | ASD | iPSC and GABA neuron derivation from whole blood | GABAergic neurons | Y | Y |
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| Doers et al., 2014 [26] | Fragile X syndrome | iNCs show neurite outgrowth deficit | Forebrain neurons | Y (3) | N |
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| Germain et al., 2014 [27] | Neurodevelopmental disorders | Gene expression analysis of iPSCs from 15q11 variants | Differentiated glutamatergic neurons | Y (3) | Y |
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| Griesi-Oliveira et al., 2014 [28] | ASD | TRPC6 gene is associated with ASD | Differentiated glutamatergic neurons | Y (1) | N |
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| Hashimoto-Torii et al., 2014 [29] | SCZ | Heat shock transcription factor 1 mediated stress response abnormalities in a subpopulation of iNPCs | NPCs | Y (4) | Y |
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| Hook et al., 2014 [30] | SCZ | Increased catecholaminerg neural activity in SCZ cell cultures | Panneuronal differentiation protocol | Y (4) | Y |
|
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Chung et al., 2014 [31] | Fragile X syndrome | Development of a high-content screening assay | NPCs | Y | N |
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| Krey et al., 2013 [32] | Timothy syndrome | iNCs exhibit dendritic retraction deficit | Differentiated glutamatergic neurons | Y (2) | Y |
| Kumari et al., 2015 [33] | Fragile X syndrome | Development of a high-throughput screening assay | NPCs | Y (3) | N |
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| Larimore et al., 2013 [34] | Rett syndrome | MECP2 regulates synaptic expression of dysbindin-BLOC1 pathway | Differentiated glutamatergic neurons | Y (2) | Y |
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| Lin et al., 2012 [35] | SCZ | Allele specific expression profile | Differentiated glutamatergic neurons | Y (3) | Y |
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| Lin et al., 2014 [36] | SCZ, ASD | Heat shock alters SCZ, ASD-related genes | 3-dimensional neuronal aggregates | Y | Y |
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| Liu et al., 2012 [37] | Fragile X syndrome | FMR1 mutation linked phenotype and signaling deficits | Differentiated neurons | Risk variant carrier | Y |
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| Madison et al., 2015 [38] | BPD | Phenotypic alterations in BPD progenitors rescued by WNT inhibition | NPCs | Y (2) (pedigree-study) | N |
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| Maekawa et al., 2015 [39] | SCZ, ASD | Hair follicle is a potential biomarker source | iPSC-derived neurospheres | Y | Y |
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| Marchetto et al., 2010 [40] | Rett syndrome | Morphological and electrophysiological anomalies | Panneuronal differentiation protocol | Y | Y |
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| Maschietto et al., 2015 [41] | SCZ | Altered gene expression profile during neurodevelopment | NPCs | Y (1) | Y |
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| Niedringhaus et al., 2015 [42] | Fragile X syndrome | Mobile raft minicultures developed for high-throughput assays on neurons | Differentiated neurons in microraft cultures | Y (1) | Y |
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| Paşca et al., 2011 [43] | Timothy syndrome | Disease-specific cellular phenotype and differentiation | Cortical glutamatergic neurons | Y (2) | Y |
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| Paulsen et al., 2014 [44] | SCZ | Zinc and potassium imbalance reverted by valproate | NPCs | Y (2) | N |
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| Pedrosa et al., 2011 [45] | SCZ | 22q11.2 deletion delays differentiation | Glutamatergic neurons | Y (3) | N |
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| Robicsek et al., 2013 [46] | SCZ | Impaired differentiation, maturation, and mitochondrial dysfunction | Dopaminergic neurons | Y (3) | N |
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| Roussos et al., 2014 [47] | SCZ | CACNA1C variation disrupts gene regulation through chromosome loops | Differentiated glutamatergic neurons | N | Y |
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| Shcheglovitov et al., 2013 [48] | 22q13.3 deletion syndrome | SHANK3 and IGF1 correct excitatory synaptic transmission deficit | Differentiated glutamatergic neurons | Y (2) | N |
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| Sheridan et al., 2011 [49] | Fragile X syndrome | Diminished neural differentiation | Differentiated neurons and glia | Y (3) | Y |
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| Shi et al., 2014 [50] | Psychopharmacology | Dopamine 2 receptor is mediated by microRNA-9 and microRNA-326 | Dopaminergic neurons | N | Y |
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| Tian et al., 2014 [51] | Timothy syndrome | Altered signaling leads to transcriptional dysregulation | Differentiated glutamatergic neurons | Y (3) | Y |
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| Topol et al., 2015 [52] | SCZ | Altered WNT signaling | Forebrain patterned NPCs | Y (4) | N |
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| Wang et al., 2014 [53] | BPD | Cell adhesiveness is associated with lithium response | Immature iNs, lentiviral-based transdifferentiation | Y (12) | Y |
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| Wen et al., 2014 [54] | SCZ, MDD | DISC1 mutation causes synaptic deficits and transcription dysregulation | Glutamatergic forebrain neurons | Y (2) | N |
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| Williams et al., 2014 [55] | Rett syndrome | MECP2 mutant astrocyte influences negatively the morphology and function of cocultured neurons | Astrocytes | Y | Y |
| Yoon et al., 2014 [56] | SCZ | 15q11.2 CNV results in neural stem cell deficit | Neural rosettes, NPCs | Y | Y |
|
| Yu et al., 2014 [57] | SCZ | Deficit in hippocampal granule neuron generation | Hippocampus dentate gyrus granule cells | Y (4) | Y |
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| Zeng et al., 2013 [58] | Neurodevelopment | NRXN1 silencing impacts adhesion and differentiation related transcription | NPCs and differentiated neurons | N | Y |
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