Fig. 1

Generation of MD-iPSCs. a Expression of pluripotent markers in MD-iPSCs. MD1- and MD2-iPSCs had normal morphologies and expressed pluripotent markers. Scale bars = 500 μm. b Transcriptional expression of transgenes such as OCT4, SOX2, cMYC, and KLF4 in MD-Fib, MD-inf, and MD-iPSCs. Transcription of the transgenes was detected only in infected MD1 and MD2 fibroblasts. c Teratoma formation of MD-iPSCs in immunodeficient mice. H&E staining was performed to detect diverse cell types and tissues (neural rosette, ectoderm; adipose tissue, mesoderm; and secretory gland, endoderm). Scale bars = 100 μm. d Epigenetic reprogramming in MD-iPSCs. Promoters of pluripotent genes were highly demethylated in MD1- and MD2-iPSCs compared with fibroblasts. Each circle represents the methylation status of single CpG dinucleotides: empty circle, unmethylated; filled circle, methylated. ALP alkaline phosphatase, iPSC induced pluripotent stem cell, Inf infected fibroblasts, Fib normal fibroblasts, MD1/2 Menkes disease patient 1/2, Tg transgene