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Stem Cell Res. 2019 Oct 25;41:101624. doi: 10.1016/j.scr.2019.101624. [Epub ahead of print]

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.

Author information

1
Institute for Biomedicine, Eurac Research, via Galvani 31, Bolzano 39100, Italy. Electronic address: alessandra.zanon@eurac.edu.
2
Institute for Biomedicine, Eurac Research, via Galvani 31, Bolzano 39100, Italy.
3
Laboratory of Medical Genetics, Fondazione IRCCS Ca´ Granda, Ospedale Maggiore Policlinico, Milano, Italy.
4
Department of Neurology, University of Lübeck, Lübeck, Germany.
5
Institute for Biomedicine, Eurac Research, via Galvani 31, Bolzano 39100, Italy; Department of Neurology, University of Lübeck, Lübeck, Germany.

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.

PMID:
31715428
DOI:
10.1016/j.scr.2019.101624
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