(A) Spectral karyotype of Control, POF, and Turner syndrome (TSC1, TSC2, TSN, and TSF) fibroblasts. The white box indicates two X chromosomes in Control and POF fibroblasts and only one X chromosome in all Turner syndrome fibroblasts. (B) X chromosome deletion map from genome-wide human SNP array for fibroblast samples. The red shaded box indicates the region of monoallelic SNPs, indicating the deletion of the second X chromosome in Turner syndrome fibroblasts. Arrowhead marks a centric portion of TSC1 with biallelic SNPs. (C) Phase-contrast image of one iPSC subclone (C = subclone) colony, grown on MEFS or matrigel, derived from Control, POF, and Turner syndrome fibroblasts along with their spectral karyotype. The white box indicates two X chromosomes in Control and POF iPSC subclones and only one X chromosome in all Turner syndrome iPSC subclones. (D) Immunofluorescence for cell surface markers TRA-1-60, TRA-1-80, and SSEA4 (green) along with nuclear marker OCT4 (red) marking pluripotent iPSC subclones. Cell nuclei were costained with DAPI (blue). Scale bar, 150 μm. (E) Immunofluorescence for markers of the three germ layers after spontaneous differentiation of iPSC subclones, demonstrating cells expressing α Feto Protein (endoderm), Smooth Muscle Actin (mesoderm), and βIII Tubulin (ectoderm) (green). Cell nuclei were costained with DAPI (blue). Scale bar, 150 μm. (F) In vitro (teratoma) differentiation of subclones from all iPSC lines with evidence of all three germ layers, the gut epithelium (endoderm), cartilage, and smooth muscle (mesoderm), and neural rosettes and pigmented epithelium (ectoderm). Human germ cell formation in xenotransplants of induced pluripotent stem cells carrying X chromosome aneuploidies: Dominguez AA, Chiang HR, Sukhwani M, Orwig KE, Reijo Pera RA - Scientific reports (2014). Not altered. CC.