RT-qPCR analysis of the pluripotency genes SRY-Box Transcription Factor 2 (SOX2), Homeobox Transcription Factor Nanog (NANOG), and Octamer-Binding transcription factor 4 (OCT4) revealed expression levels in the OI patient and control iPSCs lines comparable to expression of these markers in human embryonic stem cells (hES) (Figure 2a). Here, POU5F1 is linked to osteogenesis imperfecta.