Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene


Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous deletion of exon 3 in the PRKN gene. Skin fibroblasts were reprogrammed using non-integrating episomal plasmids. The generated cell line (EURACi005-A; iPS-2011) exhibits expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. This iPSC line provides a valuable resource for further research on the pathomechanism and drug testing for PRKN-linked PD. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zanon A, Riekschnitz D, von Troyer M, Volpato C, Picard A, Cantaloni C, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I
Journal Stem cell research
Publication Date 2019 Dec;41:101624
PubMed 31715428
DOI 10.1016/j.scr.2019.101624

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