Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

Simone B. Larsen; Zoé Hanss; Gérald Cruciani; François Massart; Peter A. Barbuti; George Mellick; Rejko Krüger

Stem Cell Research (May 2020)

Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

Simone B. Larsen,
Zoé Hanss,
Gérald Cruciani,
François Massart,
Peter A. Barbuti,
George Mellick,
Rejko Krüger

Affiliations

Simone B. Larsen: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg
Zoé Hanss: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Corresponding author.
Gérald Cruciani: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg
François Massart: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg
Peter A. Barbuti: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Luxembourg Institute of Health (LIH), Strassen, Luxembourg
George Mellick: Griffith Institute for Drug Discovery, Griffith University, Nathan, Australia
Rejko Krüger: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Luxembourg Institute of Health (LIH), Strassen, Luxembourg; Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg

Journal volume & issue: Vol. 45

Abstract

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Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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