Single-cell RNA sequencing of airway epithelial cells derived from patient-specific and gene-corrected human iPSCs carrying a CCNO variant

This study aims to elucidate the molecular mechanisms underlying the pathology of Primary Ciliary Dyskinesia (PCD) caused by disease-associated gene variants. To this end, we will establish patient-specific iPSCs and gene-corrected iPSC lines, differentiate them into airway epithelial cells, and perform single-cell RNA sequencing for comparative transcriptomic analysis. Insights gained from this study are expected to contribute to the development of novel diagnostic and therapeutic strategies for PCD.

• Type: Transcriptome Sequencing
• Archiver: Japanese Genotype-phenotype Archive (JGA)