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). The gene discussed is SOX2; the disease is osteogenesis imperfecta.