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

doi:10.1016/j.scr.2019.101624

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article

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 language	English
Article number	101624
Journal	Stem Cell Research
Volume	41
DOIs	https://doi.org/10.1016/j.scr.2019.101624
Publication status	Published - 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

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. / 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.

In: Stem Cell Research, Vol. 41, 101624, 12.2019.

Research output: Contribution to journal › Article

Zanon, A, Riekschnitz, D, von Troyer, M, Volpato, C, Picard, A, Cantaloni, C, Di Segni, M, Silipigni, R, Pramstaller, PP, Hicks, AA & 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, vol. 41, 101624. https://doi.org/10.1016/j.scr.2019.101624

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. / 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. In: Stem Cell Research. 2019 ; Vol. 41.

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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.",

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