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Zanon, Alessandra; Riekschnitz, Diana; von Troyer, Michael; Volpato, Claudia; Picard, Anne; Cantaloni, Chiara; Di Segni, Marina; Silipigni, Rosamaria; Pramstaller, Peter P.; Hicks, Andrew A.; Pichler, Irene
Stem cell research, December 2019, 2019-12-00, 20191201, 2019-12-01, Letnik: 41Journal Article
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.
