Induced pluripotent stem cells as models of human neurodevelopmental disorders

Alexandre Jourdon, Jessica Mariani, Soraya Scuderi, Anahita Amiri, Feinan Wu, Eunice Y. Yuen, Alexej Abyzov, Flora M. Vaccarino

Research output: Chapter in Book/Report/Conference proceedingChapter


Induced pluripotent stem cells (iPSCs) have opened an important chapter in the study of neurodevelopment. They allow the study of species, such as humans and primates, whose accessibility to experimentation was previously limited or impossible. In addition, they maintain the genetic background of the individual donors, allowing to make connections between genomic variation, gene expression, gene regulation, and phenotype. Conceptual and experimental approaches to iPSC-based studies and disease modeling are described, and quality control issues and limitations are discussed. Several analytical techniques that are currently used in the iPSC field are presented, including genome, transcriptome and epigenome analyses, cell phenotyping, and electrophysiology. Finally, experimental design issues in modeling disorders with iPSC are discussed.

Original languageEnglish (US)
Title of host publicationNeurodevelopmental Disorders
Subtitle of host publicationComprehensive Developmental Neuroscience
Number of pages29
ISBN (Electronic)9780128144091
ISBN (Print)9780128144107
StatePublished - Jan 1 2020


  • Autism
  • Developmental disorders
  • Disease modeling
  • Enhancers
  • Epigenome
  • Neural stem cells
  • Neurodegenerative disorders
  • Neuronal progenitor cells
  • Organoids
  • Transcriptome
  • iPSC

ASJC Scopus subject areas

  • General Medicine


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