FIGURE

Fig. 2

ID

ZDB-FIG-240517-6

Publication

Scala et al., 2023 - Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Other Figures

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Fig. 2

CACHD1 depletion alters NPC proliferation and differentiation. A. Schematic describing the workflow of NPC cellular. B. Quantification of the percentage of HuCD+ post-mitotic neurons in Day 30 differentiation cultures from control and CACHD1-edited SNaP lines. Representative images depict nuclei in blue and HuCD in green. Scale bar, 50 μm. C. Quantification of the percentage of SOX2+ NPCs in Day 30 differentiation cultures from control and CACHD1-edited SNaP lines. Representative images depict nuclei in blue and SOX2 in green. Scale bar, 50 μm. D. Schematic describing the production of 3D neurospheres derived from 2D SNaP cultures. E. Lightsheet imaging of a day 7 SNaP-neurosphere stained with phospho-Vimentin (NPC marker) and MAP2 (neurite marker). F. Representative bright field images of control and CACHD1-edited neurospheres at day 15 post-plating. Scale bar, 1 mm. G. Quantification of (F). Data are represented as mean ± S.D.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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