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

Alessandra Zanon, Diana Riekschnitz, Michael von Troyer, Claudia Volpato, Anne Picard, Chiara Cantaloni, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number101624
JournalStem Cell Research
Volume41
DOIs
Publication statusPublished - Dec 2019

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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    Zanon, A., Riekschnitz, D., von Troyer, M., Volpato, C., Picard, A., Cantaloni, C., Di Segni, M., Silipigni, R., Pramstaller, P. P., Hicks, A. A., & Pichler, I. (2019). 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. Stem Cell Research, 41, [101624]. https://doi.org/10.1016/j.scr.2019.101624