Fig. 1.

Characterization of RTT- iPSCs derived from RTT patients. (A) Structure of MeCP2 and location (amino acid residues) of mutations. (B) Representative immunofluorescence images of RTT-iPSC-w and RTT-iPSC-m showing expression of pluripotency markers of SSEA3, SSEA4, Tra-1-81, Tra-1-60, NANOG, and OCT4. (C) Relative expression of OCT4, SOX2, KLF4, MYC, and NANOG in monoallelic WT and mutant RTT-iPSCs compared with parental fibroblasts and H1 hESCs by real-time qPCR. qPCR was performed in triplicate, and the relative gene expression was calculated by normalizing against the parental RTT fibroblast cells. Mean ± SEM are shown with error bar. (D) Images for normal karyotype of iPSCs. (E) Representative images of teratomas generated in immunodeficient mice injected with RTT-iPSCs. RTT-iPSCs composed a well-defined cystic teratoma with tissues of all three germ layers including endoderm (respiratory epithelium), mesoderm (smooth muscle and bone), and ectoderm (neuronal rosettes).