Fig. 1

Characterization of ALDH5A1-mutated iPSC lines (p.L243_S245del and p.A244_Q246del). A Illustration showing the CRISPR/Cas9 strategy for the ALDH5A1 gene. (The yellow arrow marks the position of the gene on the chromosome); The sgRNA targets the two mutations in exon 5 indicated by the red arrow. B Images showing typical stem cell morphology and efficiency of transfection (magnification, × 10). C Sanger Sequencing and alignment of sequencing results showing deletions in the ALDH5A1 gene (p.L243_S245del mutant, left; p.A244_Q246del mutant, right). D Representative images of immunofluorescence staining of wild-type cells for pluripotency markers OCT4, Tra1-60, SSEA-4 and NANOG; DAPI was used to stain for nuclei. Scale bar = 100 μm. (iPSC, the wildtype cell lines) E Results of the karyotype analysis for the three cell lines