Fig. 2

Characterization of control- and patient-derived induced pluripotent stem cells (iPSCs). a Phase contrast images of the patient-derived iPSCs (scale bar = 500 μm) showed that both patient-–derived iPSCs had the typical morphology of human pluripotent stem cells on mouse embryonic fibroblast (MEF). b Sequencing of α tubulin 1A (TUBA1A) in the genomic DNA of the iPSCs showed that the generated iPSCs had missense mutations in TUBA1A (c.986A > G in patient A-derived iPSCs, and c.790C > T in patient B-derived iPSCs); these base substitutions cause the p.N329S mutation and p.R264C mutation, respectively, in the TUBA1A protein. c Immunocytochemistry for the marker proteins OCT3/4 and NANOG of pluripotent stem cells (scale bar = 50 μm). All the generated iPSCs expressed both OCT3/4 and NANOG. All the iPSCs derived from the lissencephaly patients (TUBA1A-iPS-A#1,3, TUBA1A-iPS-B-#1,2) expressed both OCT3/4 and NANOG. d Giemsa staining of the generated iPSCs. Karyotype of the patient-derived iPSCs showed that they had normal 46 XY karyotype