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Due to a lack of suitable animal or cellular disease models, the research progress on KBD has been limited. Our goal was to establish the first disease\u2010specific human induced pluripotent stem cell (hiPSC) cellular disease model of KBD, and to explore its etiology and pathogenesis exploiting transcriptome sequencing. HiPSCs were reprogrammed from dermal fibroblasts of two KBD and one healthy control donor via integration\u2010free vectors. Subsequently, hiPSCs were differentiated into chondrocytes through three\u2010week culture. Gene expression profiles in KBD, normal primary chondrocytes, and hiPSC\u2010derived chondrocytes were defined by RNA sequencing. A Venn diagram was constructed to show the number of shared differentially expressed genes (DEGs) between KBD and normal. Gene oncology and Kyoto Encyclopedia of Genes and Genomes annotations were performed, and six DEGs were further validated in other individuals by RT\u2010qPCR. KBD cellular disease models were successfully established by generation of hiPSC lines. Seventeen consistent and significant DEGs present in all compared groups (KBD and normal) were identified. RT\u2010qPCR validation gave consistent results with the sequencing data. Glycosaminoglycan biosynthesis\u2014heparan sulfate\/heparin; PPAR signaling pathway; and cell adhesion molecules (CAMs) were identified to be significantly altered in KBD. Differentiated chondrocytes derived from KBD\u2010origin hiPSCs provide the first cellular disease model for etiological studies of KBD. 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