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Updated: Oct 28, 2026

Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders
Published on: April 14, 2017
Modeling somatic mutations associated with neurodevelopmental disorders using mosaic human brain organoids and
1Department of Neuroscience, University of California, Berkeley, Berkeley, CA, USA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Abstract:
Somatic mosaicism, the presence of genetically distinct cell populations within a single individual, has emerged as a key driver of human brain diversity and pathology. Originally associated with focal epilepsies and malformations of cortical development, recent evidence shows that somatic mutations can also contribute to neuropsychiatric and neurodegenerative diseases. High-throughput sequencing and single-cell multi-omics have revealed that the brain is a landscape of clonal expansions and somatic variants. To model the functional consequences of these mutations, new approaches are needed. This review focuses on emerging approaches that use human brain organoids and assembloids to model mosaic brain tissue and investigate cell-autonomous and non-cell-autonomous effects of genetic variants.

