FIGURE

Fig. 4

ID

ZDB-FIG-200205-17

Publication

Hengel et al., 2020 - Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

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Fig. 4

Patient-derived cerebral organoids are underdeveloped.

a Volumes (mean ± SD) and b representative images (scale bar = 1 mm) of cerebral organoids derived from iPSCs from WT (n = 18 organoids from the same batch), unaffected parent (UGDH WT/A82T, n = 15), and patients (UGDH A82T/A82T (n = 10), Y14C/S72P (n = 7), and R65*/Y367C (n = 6) after 10 weeks of differentiation. Lower right panel: close-up views of the edges of indicated cerebral organoids. Scale bar = 500 μm. c RT-qPCR for neuronal differentiation markers (PAX6, TBR2, and TUJ1) in WT (n = 4 cerebral organoids), unaffected parent (WT/A82T, n = 3), and patients (A82T/A82T, Y14C/S72P, and R65*/Y367C, n = 3 each) cerebral organoids. Levels of expression are normalized to GAPDH. Mean ± SD fold change relative to WT is plotted. d Representative images of consecutive sections of cerebral organoids derived from iPSCs from WT (N = 5 cerebral organoids, n = 40 ventricle-like zones), unaffected parent (WT/A82T, N = 4, n = 15), and patients (A82T/A82T N = 3, n = 40, Y14C/S72P N = 4, n = 18, and R65*/Y367C N = 2, n = 9) stained with H&E, and immunostained with markers TUJ1/PCNA/DAPI, SOX2/DAPI, and GFAP/DAPI. Scale bar = 100 μm. a, c Asterisks indicate p-values of p < 0.05(*), p < 0.001(***), NS: non-significant (p > 0.05) as determined by ANOVA test with Bonferroni correction. a–c Cerebral organoids represented here are all from batch 2 and derived from iPSCs clone 1 for each genotype, see Suppl. Fig. 4 for more information. For graphs source data, please refer to the source data file 2.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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