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

• Published in: Stem cell research Vol. 60; p. 102692
• Main Authors: Castelo Rueda, Maria Paulina, Gilmozzi, Valentina, Riekschnitz, Diana A., Di Segni, Marina, Silipigni, Rosamaria, Pramstaller, Peter P., Hicks, Andrew A., Pichler, Irene, Zanon, Alessandra
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-04-2022; Elsevier
• Subjects: Exons - genetics; Heterozygote; Humans; Induced Pluripotent Stem Cells - metabolism; Mutation; Parkinson Disease - genetics; Parkinson Disease - metabolism; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102692

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.