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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Fig. 1

Generation and characterization of iPSCs from a PD patient carrying the variation p.Q811R in POLG1. a Schematic representation of iPSC generation and experimental workflow. b Bright field images showing iPSC colony formation, alkaline phosphatase activity, and loss of Sendai virus in three iPSC clones derived from the POLG1 p.Q811R variant patient. Scale bars: 100 μm. c POLG1 p.Q811R variant iPSC clones stained for the pluripotent markers NANOG, OCT4, TRA1–81. Scale bar: 100 μm. d DNA sequencing analysis confirming the presence of p.Q811R (c.2432 A > G). e DNA fingerprinting confirming genetic equivalency to parental fibroblasts. f Immunocytochemistry for alpha-fetoprotein (AFP), beta-III-tubulin (BIIITUB) and smooth muscle actin (SMA), confirming formation of all three germ layers. Scale bar: 100 μm

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Acta Neuropathologica Communications

ISSN: 2051-5960

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