Figure 1.

Generation of TGM1^C607T cell model

(A) The graphical representation shows the position of the pathogenic mutation. The target site is highlighted in red, and the related codon is underlined. (B) The procedure for simulating and correcting the pathogenic mutation in cell lines. For the first step, the mutant cell model is generated using the cytosine base editing (CBE) system combined with the mutation sgRNA (mt-sgRNA), and then the mutant cell model is corrected using the adenine base editing (ABE) system with the repair sgRNA (re-sgRNA). (C) sgRNAs used for generating mutant cell. The pathogenic site was at position 5 for mt-sg1 and position 6 for mt-sg2. (D) The editing efficiency of two sgRNAs combined with five different editors. Data are shown as mean ± SEM (n = 3 from three independent experiments). (E) The representative sequence chromatogram of mutant cell line harboring the homozygous mutation. The red star indicates the substituted or normal base.