Fig. 2. Characterization of FA-specific iPSCs.
A, DNA methylation profile of the OCT4 promoter region in control-, FA-iPSCs and C-FA-iPSCs. A diagram showing the position of the CpG dinucleotides relative to the OCT4 transcription start site is provided. B, RT-qPCR analysis of endogenous expression of the indicated pluripotency genes in the indicated lines. FA fibroblast and H9 human ESCs (Ctrl-ESC) were included as negative and positive controls, respectively. Data are shown as mean±s.d. n=3. C, Immunostaining in teratomas derived from FA-iPSCs show in vivo differentiation towards ectodermal, mesodermal and endodermal tissues. Scale bar, 75 μm. D, Western blotting analysis of FANCA expression in iPSCs, MSCs, and fibroblasts (Fib) treated with or without MMC. Ku80 was included as a loading control. Also see Supplementary Fig. 8. E, Karyotyping analysis revealed normal karyotypes in all of the indicated iPSC lines. For FA-iPSC, four clones were randomly selected. C-FA-iPSC#1 and C-FA-iPSC#2 indicate FA-iPSCs corrected by HR and lentiviral vector, respectively.