ArticleScientific reports2020
A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The utility of animal models in hiPSC-based studies of autism spectrum disorder: a systematic review.Einstein (Sao Paulo, Brazil) · 2026Pooled it
- Chimeric brain models: Unlocking insights into human neural development, aging, diseases, and cell therapies.Neuron · 2025Review
- Amelioration of biased neuronal differentiation in humanized mouse model of valproic acid-induced autism by precisely targeted transcranial magnetic stimulation.Bioengineering & translational medicine · 2025Article
- Article
- Sex- and age-dependent contribution of System xFrontiers in behavioral neuroscience · 2023Article
- Article
- Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.International journal of molecular sciences · 2021Review
- Brain Long Noncoding RNAs: Multitask Regulators of Neuronal Differentiation and Function.Molecules (Basel, Switzerland) · 2021Review
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9 authors.
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Abstract
Using human induced pluripotent stem cells (iPSC), recent studies have shown that the events underlying autism spectrum disorders (ASD) can occur during neonatal development. We previously analyzed the iPSC-derived pyramidal cortical neurons of a subset of patients with ASD carrying de novo heterozygous mutations in postsynaptic SHANK3 protein, in culture. We reported altered spinogenesis of those neurons. The transplantation of human iPSC-derived neuronal precursors into mouse brain represents a novel option for in vivo analysis of mutations affecting the human brain. In this study, we transplanted the neuronal precursor cells (NPC) into the cortex of newborn mice to analyze their integration and maturation at early stages of development and studied axonal projections of transplanted human neurons into adult mouse brain. We then co-transplanted NPC from a control individual and from a patient carrying a de novo heterozygous SHANK3 mutation. We observed a reduction in cell soma size of selective neuronal categories and in axonal projections at 30 days post-transplantation. In contrast to previous in vitro studies, we did not observe any alteration in spinogenesis at this early age. The humanized chimeric mouse models offer the means to analyze ASD-associated mutations further and provide the opportunity to visualize phenotypes in vivo.
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