Genome editing strategies to generate working models of polycystic kidney disease.

ABSTRACT: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is predominantly caused by pathogenic variants in PKD1 with truncating variants generally associated with more rapid cyst formation. However, it is difficult to predict disease progression, particularly in the case of missense variants. In this context, our aim was to provide a proof of principle that it is possible to generate cellular models carrying specific PKD1 variants. We generated homozygous (Ex15^-/-) and heterozygous mutants (Ex15^+/-) starting from HEK293T cells. Then, the variant c.11614G > A p.(E3872K) was introduced into PKD1 WT and heterozygous clones, obtaining compound heterozygous (Ex15^+/-/Ex42^M/M) cell lines. Functional assays confirmed the pathogenicity of the c.11614G > A var

SUBMITTER: Migliorero M 

PROVIDER: S-EPMC12480119 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature