While many genetic risk factors are currently associated with autism spectrum disorder (ASD), no single mutation accounts for more than a minor fraction of cases. Understanding how these mutations contribute to ASD etiology has proven challenging, due both to the inaccessibility of the developing human brain and to limitations of animal models, which diverge from humans both genetically and in multiple aspects of brain development. Therefore, in recent years, human pluripotent stem cell (hPSC) models have been used to recapitulate aspects of human neurodevelopment and study how these are affected in ASD. Here, we describe common genetic liabilities associated with ASD, approaches used to model these in hPSCs, and a range of cellular and molecular phenotypes previously observed in hPSC models of ASD. Together, this work highlights the potential for hPSC-derived models of ASD to define contributors to clinical phenotypes and to suggest potential avenues for intervention in affected individuals.

Original languageEnglish
Title of host publicationThe Neuroscience of Autism
Number of pages30
ISBN (Electronic)9780128163931
ISBN (Print)9780128167366
StatePublished - Jan 1 2022


  • Astrocyte
  • Autism spectrum disorder
  • Differentiation
  • Excitation
  • Inhibition
  • Morphology
  • Neuron
  • Pluripotent stem cell
  • Proliferation
  • Synapse


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