Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes
To elucidate how TRPV4 mutations cause skeletal dysplasia, we used CRISPR-Cas9-edited hiPSCs harboring the moderate V620I and lethal T89I mutations to differentiate chondrocytes and hypertrophic chondrocytes. We then used mRNA sequencing to analyze differential gene expression between 3 cell lines, 2 time points, and 2 treatments. Overall design: Differential gene expression using mRNA-seq data for TRPV4-V260I and TRPV4-T89I hiPSC-derived chondrocytes compared to WT (n=3-4).