Mutation of PAX3 gene impairs otic vesicles via inhibiting the Wnt1/β-catenin signaling pathway in inner ear organoids of Waardenburg syndrome type I

To investigate pathogenic mechnism of hearing loss in inner ear organoids in PAX3 gene mutation of WS1 patient in vitro , we established the iPSCs line from one WS1 patient carrying a heterozygous mutation in the PAX3 gene and one healthy control. We also constructed the iPSCs line from isogenic CRISPR/Cas9 corrected iPSCs of PAX3 gene mutation. These iPSCs were differentiated into inner ear organoid-like structure with otic vesicles-specific marker. We then performed gene expression profiling analysis using data obtained from RNA-seq of four different cells at two time points in their respective iPSCs and inner ear organoids.