Mike McConnell, from University of Virginia School of Medicine, presented the use of hiPSC-based neurogenesis to study brain mosaicism (McConnell et al., 2013). His strategy is to perform single cell genomic sequencing. His data from primary brain showed that 45/110 human frontal cortex neurons had megabase-scale CNVs. Similarly, he detected similar levels of mosaic CNVs in hiPSC-derived neurons but very low levels of mosaicism in hiPSC-derived NPCs or human fibroblasts. These data suggest that some aspects of primary brain somatic mosaicism are recapitulated during hiPSC-based neurogenesis. His laboratory is currently defining the levels of genetic mosaicism in neuronal cultures to understand the impact of mosaicism on disease modeling. New data were presented using hiPSC-based neurogenesis to investigate the cause and consequence of brain somatic mosaicism.
