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Testing Brain Overgrowth and Synaptic Models of Autism Using NPCs and Neurons From Patient Derived iPS Cells

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Technical Report,15 Sep 2013,14 Sep 2015

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The Salk Institute for Biological Studies La Jolla United States

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Autism and autism spectrum disorders ASD are complex neurodevelopmental diseases that affect about 1 of children in the United States. Such disorders are characterized by deficits in verbal communication, impaired social interaction, and limited and repetitive interests and behavior. Recent studies have led to two major hypotheses for autism pathogenesis early brain overgrowth and synaptogenesis defects. The goal of this project is to produce human cellular models of non-syndromic ASD. We used cellular reprogramming to develop iPSCs from ASD patients and non-autistic controls for the production of patient-derived neural progenitors NPCs and neurons to study cellular phenotypes that directly test whether brain overgrowth andor synaptogenesis mechanisms are found in ASD NPCs and neurons. Patient-derived NPCs and neurons from these ASD and control individuals will be used for the functional characterization of iPSCs-derived NPCs and neurons from ASD and control individuals for potential autism-specific defects in proliferation, neural development and synaptogenesis, and for gene expression studies.


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