Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome
Figure 2
Derivation and Characterization of FXS Induced Pluripotent Stem Cells.
(A) Alkaline phosphatase enzymatic and pluripotent marker (OCT4, NANOG and SSEA-4) immunocytochemical analysis of FXS patient-derived iPSC clones. (B) Endogenous OCT4, NANOG and REX1 pluripotency-associated transcript expression as analyzed by RT-PCR in indicated iPSC lines and fibroblasts (NTC - non-template containing control). (C) Bisulphite pyrosequencing analysis of the endogenous OCT4/POU5F1 promoter in indicated lines (open circles, unmethylated (<50%) CpGs; black circles, methylated CpGs). (D) Embryoid body pathological evaluation of H&E stained sections (clone 848-iPS1 shown) indicating representative ectoderm (neural epithelium, left), endoderm (respiratory epithelium, center) and mesoderm (connective tissue, right) germ layers.