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Image Search Results
Journal: Human Molecular Genetics
Article Title: PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction
doi: 10.1093/hmg/ddy413
Figure Lengend Snippet: Generation of human isogenic lines harboring PD-related CHCHD2 mutants. ( A ) PD-associated CHCHD2 mutants T61I, Q126X and R145Q on functional domains of human CHCHD2 protein. CHCH domain. ( B ) Schematic overview depicting human CHCHD2 locus and Cas9 targeting strategy with designed guide RNA recognized exon 3 sequences in human CHCHD2 locus. ( C ) Sanger sequencing chromatogram showing the heterozygous point mutation leading to Q126X+/−. Representative results from Q10 were shown. ( D ) Sanger sequencing chromatogram on the reverse DNA strand showing the heterozygous point mutation leading to R145Q+/− (R4), the homozygous point mutant leading to R145Q−/− (R17) at the targeting locus of H9 (+/+) hESCs. * the blocking nonsense mutation to enhance the specificity of Cas9 system.
Article Snippet: Capped and polyadenylated Cas9 mRNA was obtained from
Techniques: Functional Assay, Sequencing, Mutagenesis, Blocking Assay