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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Romano E, Trionfini P, Ciampi O, Benigni A, Tomasoni S
Journal Stem cell research
Publication Date 2020 Jun 19;47:101881
PubMed 32592954
DOI 10.1016/j.scr.2020.101881

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