
The study aimed to investigate the use of urine-derived cells (UDC) for RNA transcript analysis in patients with osteogenesis imperfecta (OI), a genetic disorder. Urine samples were collected from 45 children and adolescents, and UDC culture was successful in 40 participants. RNA sequencing of UDC revealed gene expression profiles similar to fibroblasts and with less variability than whole blood cells. The analysis identified abnormal splicing in participants with known pathogenic variants and provided evidence for the pathogenicity of variants of uncertain significance (VUS). The study concludes that UDC can be a suitable source for functional evaluation of genetic variants, particularly those affecting splicing, in OI patients.
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