Fig. 1From: Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cellsDNA mutation profile of ADO2-iPSCs. (A). Statistical analysis of sequence depths for ADO2-iPSCs and NC-iPSCs. (B). Mean depth and proportion of covered bases of each chromosome between the two cell lines. (C) and (D). The detection results of single nucleotide polymorphisms (SNPs) and insertions and deletions (Indels) for ADO2-iPSCs. (E) and (F). The detection results of single nucleotide polymorphisms (SNPs) and insertions and deletions (Indels) for NC-iPSCs. (G). The mutation of CLCN7 (R286W) was confirmed by Sanger sequencing. (H). Western blotting analysis of CLC-7 protein expression levelsBack to article page