Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family


Mutations in the Parkin (PRKN) gene are the most frequent known cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous mutations might predispose to disease with a highly reduced penetrance. We generated iPSC lines from two individuals carrying a heterozygous deletion of exon 7 in the PRKN gene and two controls from the same family. PBMCs were reprogrammed using non-integrating episomal plasmids. The iPSC lines exhibit expression of pluripotency markers, the potential to differentiate into the three germ layers, and a stable karyotype. These lines will serve to study mechanisms of reduced penetrance in heterozygous PRKN mutation carriers. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Castelo Rueda MP, Gilmozzi V, Riekschnitz DA, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I, Zanon A
Journal Stem cell research
Publication Date 2022 Apr;60:102692
PubMed 35121197
DOI 10.1016/j.scr.2022.102692

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