Human induced pluripotent stem cells for modelling neurodevelopmental disorders.
paper
Cited
Public
- Authors
- Ardhanareeswaran, Karthikeyan; Mariani, Jessica; Coppola, Gianfilippo; Abyzov, Alexej; Vaccarino, Flora M
- Year
- 2017
- Journal
- Nature reviews. Neurology
- PMID
- 28418023
- DOI
- 10.1038/nrneurol.2017.45
- PMCID
- PMC5782822
We currently have a poor understanding of the pathogenesis of neurodevelopmental disorders, owing to the fact that postmortem and imaging studies can only measure the postnatal status quo and offer little insight into the processes that give rise to the observed outcomes. Human induced pluripotent stem cells (hiPSCs) should, in principle, prove powerful for elucidating the pathways that give rise to neurodevelopmental disorders. hiPSCs are embryonic-stem-cell-like cells that can be derived from somatic cells. They retain the unique genetic signature of the individual from whom they were derived, and thus enable researchers to recapitulate that individual's idiosyncratic neural development in a dish. In the case of individuals with disease, we can re-enact the disease-altered trajectory of brain development and examine how and why phenotypic and molecular abnormalities arise in these diseased brains. Here, we review hiPSC biology and possible experimental designs when using hiPSCs to model disease. We then discuss existing hiPSC models of neurodevelopmental disorders. Our hope is that, as some studies have already shown, hiPSCs will illuminate the pathophysiology of developmental disorders of the CNS and lead to therapeutic options for the millions that are affected by these conditions.
Experimental workflow for hiPSC models of neurodevelopmental disorders. Different experimental options are shown with regards to type of controls (cross-sectional, matched pair or family contrpol), choice of reprogrammed cell type, type of differentiation protocol, and outcome metrics. For patients with X-linked disorders, different colored cells represent cells with either the wild type or the mutated X allele. Corrected cells represent the same patient-derived cells after genome editing or drug treatment.
LLM interpretation
This figure is a schematic diagram illustrating the experimental workflow for using human induced pluripotent stem cell (hiPSC) models to study neurodevelopmental disorders. It maps the progression from somatic cell biopsy through reprogramming into iPSCs and differentiation into progenitors, monolayers, and organoids for three groups: unaffected controls, patients with non-X-linked disorders, and patients with X-linked disorders. A bottom table indicates which evaluation metrics (e.g., clinical diagnosis, genome sequencing, cell activity) are applied at each stage of the cellular workflow, including the use of corrected cells for potential phenotype reversal.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells? | 2018 | 29897633 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Stem cells as emerging regenerative approaches for post-traumatic stress disorder: Mechanisms and translational challenges. | Thong CN et al. | β | 2026 | β |
| Temporal proteomic and phosphoproteomic dynamics during neuronal differentiation in the reference iPSC line KOLF2.1J. | Hao Y et al. | β | 2026 | β |
| Analysis of neuronal activity impairment in iPSC-derived neurons from idiopathic autism patients. | Kern A et al. | β | 2025 | β |
| Autism Spectrum Disorder Induced Pluripotent Stem Cells Display Dysregulated Calcium Signaling During Neural Differentiation. | AlShawaf AJ et al. | β | 2025 | β |
| Brain Organoids and Assembloids-From Disease Modeling to Drug Discovery. | Ajongbolo AO et al. | β | 2025 | β |
| Detecting MUNC18-1 related presynaptic dysfunction and rescue in human iPSC-derived neurons. | Long M et al. | β | 2025 | β |
| Engineering human cerebral organoids to explore mechanisms of arsenic-induced developmental neurotoxicity. | Wu X et al. | β | 2025 | β |
| Exploration of biomaterial and stem cell-based strategies for promoting neuronal regeneration and creating engineered 3D in-vitro disease models. | Khodve G et al. | β | 2025 | β |
| Multifactorial approach is needed to unravel the maturation phases of human neurons derived from induced pluripotent stem cells. | Ben Mahmoud M et al. | β | 2025 | β |
| Nongenetic Photostimulation of hiPSC Neurons Using Plasmonic Nanopyramids. | Melikov R et al. | β | 2025 | β |
| Peering into the mind: unraveling schizophrenia's secrets using models. | Nani JV et al. | β | 2025 | β |
| Pharmacological inhibition of RE1 silencing transcription factor disrupts SOX2 expression and neurogenesis in human induced pluripotent stem cells derived neuronal models. | Nassar A et al. | β | 2025 | β |
| Stem cell therapy offers new hope for the treatment of Alzheimer's disease. | He G et al. | β | 2025 | β |
| Analysis of human neuronal cells carrying ASTN2 deletion associated with psychiatric disorders. | Hayashi Y et al. | β | 2024 | β |
| Developmental neurotoxicity of PFOA exposure on hiPSC-derived cortical neurons. | Wu S et al. | β | 2024 | β |
| Establishment of a genetically amenable fibroblast cell line from Atlantic salmon skin. | Sharma Humagain P et al. | β | 2024 | β |
| Haloperidol, Olanzapine, and Risperidone Induce Morphological Changes in an In Vitro Model of Human Hippocampal Neurogenesis. | JezsΓ³ B et al. | β | 2024 | β |
| Strategies for dissecting the complexity of neurodevelopmental disorders. | Sun J et al. | β | 2024 | β |
| Advancing preclinical models of psychiatric disorders with human brain organoid cultures. | Dixon TA et al. | β | 2023 | β |
| Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals. | Cencelli G et al. | β | 2023 | β |
| Analysis of human neuronal cells carrying ASTN2 deletion: A cross-disorder risk variant of schizophrenia, autism spectrum disorder, and bipolar disorder | Arioka Y et al. | β | 2023 | β |
| Buprenorphine and methadone differentially alter early brain development in human cortical organoids. | Yao H et al. | β | 2023 | β |
| Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons. | Parnell E et al. | β | 2023 | β |
| On the utilization of the induced pluripotent stem cell (iPSC) model to study substance use disorders: A scoping review protocol. | Niemis W et al. | β | 2023 | β |
| Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment. | Sarieva K et al. | β | 2023 | β |
| Recommendations, guidelines, and best practice for the use of human induced pluripotent stem cells for neuropharmacological studies of neuropsychiatric disorders. | Dutan Polit L et al. | β | 2023 | β |
| Role of curcumin and its nanoformulations in the treatment of neurological diseases through the effects on stem cells. | Sabouni N et al. | β | 2023 | β |
| Temporal transcriptional control of neural induction in human induced pluripotent stem cells. | Gupta S et al. | β | 2023 | β |
| Transcriptional Dysregulation and Impaired Neuronal Activity in <i>FMR1</i> Knock-Out and Fragile X Patients' iPSC-Derived Models. | Maussion G et al. | β | 2023 | β |
| Tunable hydrogel viscoelasticity modulates human neural maturation. | Roth JG et al. | β | 2023 | β |
| A nomenclature consensus for nervous system organoids and assembloids. | PaΘca SP et al. | β | 2022 | β |
| CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. | Villa CE et al. | β | 2022 | β |
| FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells. | Hettige NC et al. | β | 2022 | β |
| High-Content Screening and Analysis of Stem Cell-Derived Neural Interfaces Using a Combinatorial Nanotechnology and Machine Learning Approach. | Yang L et al. | β | 2022 | β |
| iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling. | Guo D et al. | β | 2022 | β |
| Integration of CRISPR/Cas9 with artificial intelligence for improved cancer therapeutics. | Bhat AA et al. | β | 2022 | β |
| Long-term morphological and functional dynamics of human stem cell-derived neuronal networks on high-density micro-electrode arrays. | Habibey R et al. | β | 2022 | β |
| Research models of neurodevelopmental disorders: The right model in the right place. | Damianidou E et al. | β | 2022 | β |
| Schizophrenia-derived hiPSC brain microvascular endothelial-like cells show impairments in angiogenesis and blood-brain barrier function. | Casas BS et al. | β | 2022 | β |
| The role of mycotoxins in neurodegenerative diseases: current state of the art and future perspectives of research. | Nguyen VTT et al. | β | 2022 | β |
| Tracking connectivity maps in human stem cell-derived neuronal networks by holographic optogenetics. | Schmieder F et al. | β | 2022 | β |
| Transcription-associated DNA DSBs activate p53 during hiPSC-based neurogenesis. | Michel N et al. | β | 2022 | β |
| Advancing models of neural development with biomaterials. | Roth JG et al. | β | 2021 | β |
| A monolayer hiPSC culture system for autophagy/mitophagy studies in human dopaminergic neurons. | Stathakos P et al. | β | 2021 | β |
| Cell-to-Cell Adhesion and Neurogenesis in Human Cortical Development: A Study Comparing 2D Monolayers with 3D Organoid Cultures. | Scuderi S et al. | β | 2021 | β |
| Chromosome 22q11.2 deletion causes PERK-dependent vulnerability in dopaminergic neurons. | Arioka Y et al. | β | 2021 | β |
| Comparison of Acute Effects of Neurotoxic Compounds on Network Activity in Human and Rodent Neural Cultures. | Saavedra L et al. | β | 2021 | β |
| Dysregulation of Cells Cycle and Apoptosis in Human Induced Pluripotent Stem Cells Chondrocytes Through p53 Pathway by HT-2 Toxin: An <i>in vitro</i> Study. | Zhang Y et al. | β | 2021 | β |
| Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments. | Zhang X et al. | β | 2021 | β |
| hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible. | Rivetti di Val Cervo P et al. | β | 2021 | β |
| Human forebrain endothelial cell therapy for psychiatric disorders. | Datta D et al. | β | 2021 | β |
| Human IPSC-Derived Model to Study Myelin Disruption. | Chesnut M et al. | β | 2021 | β |
| Human Oligodendrocytes and Myelin In Vitro to Evaluate Developmental Neurotoxicity. | Chesnut M et al. | β | 2021 | β |
| Intellectual disability genomics: current state, pitfalls and future challenges. | Maia N et al. | β | 2021 | β |
| Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy. | Wang W et al. | β | 2021 | β |
| Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era. | Zaghi M et al. | β | 2021 | β |
| Role of SHH in Patterning Human Pluripotent Cells towards Ventral Forebrain Fates. | Brady MV et al. | β | 2021 | β |
| Serotonin-specific neurons differentiated from human iPSCs form distinct subtypes with synaptic protein assembly. | Jansch C et al. | β | 2021 | β |
| Single-Cell Transcriptomics Supports a Role of <i>CHD8</i> in Autism. | Hoffmann A et al. | β | 2021 | β |
| Stem cell-based models and therapies: a key approach into schizophrenia treatment. | Larijani B et al. | β | 2021 | β |
| Advances in Pluripotent Stem Cells: History, Mechanisms, Technologies, and Applications. | Liu G et al. | β | 2020 | β |
| Building a Human Brain for Research. | Bitar M et al. | β | 2020 | β |
| Characterization of Human iPSC-derived Spinal Motor Neurons by Single-cell RNA Sequencing. | Thiry L et al. | β | 2020 | β |
| Characterizing spine issues: If offers novel therapeutics to Angelman syndrome. | Yang X | β | 2020 | β |
| Conducting Polymer Mediated Electrical Stimulation Induces Multilineage Differentiation with Robust Neuronal Fate Determination of Human Induced Pluripotent Stem Cells. | Tomaskovic-Crook E et al. | β | 2020 | β |
| CRISPR-based functional evaluation of schizophrenia risk variants. | Rajarajan P et al. | β | 2020 | β |
| C<sub>2</sub>H<sub>2</sub>-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis. | Al-Naama N et al. | β | 2020 | β |
| Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders. | Murtaza N et al. | β | 2020 | β |
| Functional Comparison of Blood-Derived Human Neural Progenitor Cells. | SzabΓ³ E et al. | β | 2020 | β |
| Generation of homogeneous midbrain organoids with in vivo-like cellular composition facilitates neurotoxin-based Parkinson's disease modeling. | Kwak TH et al. | β | 2020 | β |
| Human induced pluripotent stem cells technology in treatment resistant depression: novel strategies and opportunities to unravel ketamine's fast-acting antidepressant mechanisms. | Marcatili M et al. | β | 2020 | β |
| Methadone interrupts neural growth and function in human cortical organoids. | Yao H et al. | β | 2020 | β |
| Migration, Chemo-Attraction, and Co-Culture Assays for Human Stem Cell-Derived Endothelial Cells and GABAergic Neurons. | Datta D et al. | β | 2020 | β |
| The application of human pluripotent stem cells to model the neuronal and glial components of neurodevelopmental disorders. | Lee KM et al. | β | 2020 | β |
| A Simple Procedure for Creating Scalable Phenotypic Screening Assays in Human Neurons. | Sridharan B et al. | β | 2019 | β |
| Characterization of Neurodevelopmental Abnormalities in iPSC-Derived Striatal Cultures from Patients with Huntington's Disease. | Mathkar PP et al. | β | 2019 | β |
| Convergence of human cellular models and genetics to study neural stem cell signaling to enhance central nervous system regeneration and repair. | Julian D et al. | β | 2019 | β |
| Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2. | Dalla Vecchia E et al. | β | 2019 | β |
| Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms. | Larizza L et al. | β | 2019 | β |
| "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. | Prakash SK et al. | β | 2019 | β |
| Drug discovery in psychopharmacology: from 2D models to cerebral organoidsβ©. | Rossetti AC et al. | β | 2019 | β |
| Estimating contribution of rare non-coding variants to neuropsychiatric disorders. | Takata A | β | 2019 | β |
| Evaluation of variability in human kidney organoids. | Phipson B et al. | β | 2019 | β |
| Mechanobiology of cells and cell systems, such as organoids. | Bayir E et al. | β | 2019 | β |
| Modelling heme-mediated brain injury associated with cerebral malaria in human brain cortical organoids. | Harbuzariu A et al. | β | 2019 | β |
| Past, Present, and Future of Neuronal Models In Vitro. | Keller JM et al. | β | 2019 | β |
| Precisely controlling endogenous protein dosage in hPSCs and derivatives to model FOXG1 syndrome. | Zhu W et al. | β | 2019 | β |
| Progress in iPSC-Based Modeling of Psychiatric Disorders. | Hoffmann A et al. | β | 2019 | β |
| RNA-silencing nanoprobes for effective activation and dynamic imaging of neural stem cell differentiation. | Zhang R et al. | β | 2019 | β |
| The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus. | Fike AJ et al. | β | 2019 | β |
| Utilizing microphysiological systems and induced pluripotent stem cells for disease modeling: a case study for blood brain barrier research in a pharmaceutical setting. | Fabre KM et al. | β | 2019 | β |
| Various strategies to improve efficacy of stem cell transplantation in multiple sclerosis: Focus on mesenchymal stem cells and neuroprotection. | Yousefi F et al. | β | 2019 | β |
| Alpha6-Containing Nicotinic Acetylcholine Receptors Mediate Nicotine-Induced Structural Plasticity in Mouse and Human iPSC-Derived Dopaminergic Neurons. | Collo G et al. | β | 2018 | β |
| A Simplified Method for Generating Purkinje Cells from Human-Induced Pluripotent Stem Cells. | Watson LM et al. | β | 2018 | β |
| Development and disease in a dish: the epigenetics of neurodevelopmental disorders. | Lewis EM et al. | β | 2018 | β |
| From the Psychiatrist's Couch to Induced Pluripotent Stem Cells: Bipolar Disease in a Dish. | Hoffmann A et al. | β | 2018 | β |
| Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells? | Prytkova I et al. | β | 2018 | β |
| Looking into the Future: Toward Advanced 3D Biomaterials for Stem-Cell-Based Regenerative Medicine. | Liu Z et al. | β | 2018 | β |
| Nanomaterials in Neural-Stem-Cell-Mediated Regenerative Medicine: Imaging and Treatment of Neurological Diseases. | Zhang B et al. | β | 2018 | β |
| Organoids required! A new path to understanding human brain development and disease. | Arlotta P | β | 2018 | β |
| Patient-Derived Induced Pluripotent Stem Cells and Organoids for Modeling Alpha Synuclein Propagation in Parkinson's Disease. | Koh YH et al. | β | 2018 | β |
| Self-Organized Cerebellar Tissue from Human Pluripotent Stem Cells and Disease Modeling with Patient-Derived iPSCs. | Muguruma K | β | 2018 | β |
| Single-cell RNA-seq reveals dynamic transcriptome profiling in human early neural differentiation. | Shang Z et al. | β | 2018 | β |
| Stem Cells, Genome Editing, and the Path to Translational Medicine. | Soldner F et al. | β | 2018 | β |
| Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models. | Taoufik E et al. | β | 2018 | β |
| Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders. | Fink JJ et al. | β | 2018 | β |
| Understanding the role of steroids in typical and atypical brain development: Advantages of using a "brain in a dish" approach. | Adhya D et al. | β | 2018 | β |
| Concise Review: Induced Pluripotent Stem Cell Models for Neuropsychiatric Diseases. | Adegbola A et al. | β | 2017 | β |
| Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder. | Szkop KJ et al. | β | 2017 | β |
| Induced Pluripotent Stem Cell Neuronal Models for the Study of Autophagy Pathways in Human Neurodegenerative Disease. | JimΓ©nez-Moreno N et al. | β | 2017 | β |
| Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells. | Wong MMK et al. | β | 2017 | β |