Characterization of iPSC clones from each family member. (A) Karyotype in one clone from each family individual (father, HR-I-15; mother, HR-II-9; proband, OA6 17Cr8). (B) Expression of pluripotency markers in one clone from each family individual (father, HR-I-15; mother, HR-II-9; proband, OA6 17Cr8). (C) Teratoma assay indicated trilineage in vivo differentiation of the proband iPSC clone (OA6 17Cr8). Bars, 200 μm.