Generation of PKD1 mono-allelic and bi-allelic knockout iPS cell lines using CRISPR-Cas9 system

Elena Romano; Piera Trionfini; Osele Ciampi; Ariela Benigni; Susanna Tomasoni

doi:10.1016/j.scr.2020.101881

Generation of PKD1 mono-allelic and bi-allelic knockout iPS cell lines using CRISPR-Cas9 system

Stem Cell Res. 2020 Jun 19:47:101881. doi: 10.1016/j.scr.2020.101881. Online ahead of print.

Authors

Elena Romano¹, Piera Trionfini¹, Osele Ciampi¹, Ariela Benigni¹, Susanna Tomasoni²

Affiliations

¹ Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, 24126 Bergamo, Italy.
² Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, 24126 Bergamo, Italy. Electronic address: susanna.tomasoni@marionegri.it.

PMID: 32592954
DOI: 10.1016/j.scr.2020.101881

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterised by the development of multiple fluid-filled cysts in the kidneys and other organs. PKD1 and PKD2 are the two major causative genes encoding for polycystin-1 and polycystin-2, respectively. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines with either heterozygous or compound heterozygous mutations in the PKD1 gene using CRISPR-Cas9 technology. The PKD1^+/- and PKD1^-/- iPSCs maintain stem cell-like morphology, normal karyotype, pluripotency and differentiation capacity in the three germ layers.