Generation of two isogenic knockout PKD2 iPS cell lines, IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology

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

doi:10.1016/j.scr.2019.101667

Generation of two isogenic knockout PKD2 iPS cell lines, IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology

Stem Cell Res. 2020 Jan:42:101667. doi: 10.1016/j.scr.2019.101667. Epub 2019 Nov 29.

Authors

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

Affiliations

¹ Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, Via Stezzano, 87, 24126 Bergamo, Italy.
² Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, Via Stezzano, 87, 24126 Bergamo, Italy. Electronic address: susanna.tomasoni@marionegri.it.

PMID: 31830647
DOI: 10.1016/j.scr.2019.101667

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent inherited renal disease, characterized by multiple cysts that can lead to kidney failure resulting in end-stage renal disease. ADPKD is mainly caused by mutations in either the PKD1 and PKD2 genes, encoding for polycystin-1 and polycystin-2, respectively. In order to clarify the disease mechanisms, here we describe the generation of two isogenic induced pluripotent stem cell (iPSC) lines in which the PKD2 gene was deleted using CRISPR/Cas9 technology. The PKD2^-/- iPSCs expressed the main pluripotency markers, were able to differentiate into the three germ layers and had a normal karyotype.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

CRISPR-Cas Systems / genetics*
Cell Line
Humans
Induced Pluripotent Stem Cells / metabolism*
Mutation
TRPP Cation Channels / genetics*

Substances

TRPP Cation Channels
polycystic kidney disease 2 protein