Fig. 1: Generation and characterization of human iPSCs carrying APTX homozygous mutations via CRISPR/Cas9. | Cell Death Discovery

Fig. 1: Generation and characterization of human iPSCs carrying APTX homozygous mutations via CRISPR/Cas9.

From: Induced pluripotent stem cells carrying novel APTX mutations presented defective neural differentiation with the accumulation of DNA single-strand breaks

Fig. 1: Generation and characterization of human iPSCs carrying APTX homozygous mutations via CRISPR/Cas9.The alternative text for this image may have been generated using AI.

A Schematic of the CRISPR-Cas9 strategy for genomic editing to generate iPSCs carrying APTX homozygous mutations (p.H201P and p.H201R). PAM: protospacer adjacent motif. B Representative Sanger sequences of APTX genes. Normal sequences and homozygous mutations edited by CRISPR/Cas9 are indicated by arrow tips and red highlights. C Normal karyotypes were observed for the control, H201P- and H201R-iPSCs. D qRT‒PCR analysis of the mRNA expression of APTX in iPSCs. The experiments were repeated three times (n = 3, mean ± SD). One-way ANOVA. There were no significant differences. E Immunofluorescence staining for aprataxin in iPSC colonies. The cell nuclei were counterstained with DAPI. Scale bar: 50 μm. F Western blot analysis of aprataxin in iPSCs. The experiments were repeated three times (n = 3).

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