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 reprogramm...

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Bibliographic Details
Published in:Stem cell research 2019-12, Vol.41, p.101624-101624, Article 101624
Main Authors: 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
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101624