<p>This study uses human iPSC-derived cartilage to investigate the effects of the p.Arg719Cys mutation in the <a href="https://www.ncbi.nlm.nih.gov/datasets/gene/1280/">COL2A1</a> gene, which is linked to precocious osteoarthritis. Using a CRISPR-edited isogenic cell line pair, we compared wild-type and mutant cartilage for matrix defects and cellular stress responses. We performed RNA-sequencing and quantitative proteomics to characterize changes in gene expression, protein interactions, and collagen folding.</p>

Collagen Proteostasis in Health and Disease

Osteoarthritis study with RNA-Seq data on dbGaP (1 participants)