Generation of two isogenic control iPSC lines (LCSBi001-A-2 and LCSBi001-A-3) from a Parkinson’s disease patient line (LCSBi001-A) carrying the pathogenic VPS35 p.D620N mutation

The pathogenic mutation VPS35 p.D620N has been identified to cause autosomal dominant, late-onset Parkinson's disease (PD) in multiple individuals and families worldwide. Here, we describe the generation of two new isogenic control lines (LCSBi001-A-2 and LCSBi001-A-3) from an already established patient-derived line (LCSBi001-A) carrying the heterozygous VPS35 p.D620N mutation. The control lines were generated with CRISPR/Cas9 technology, and the correction of the mutation was verified with Sanger sequencing. Both lines express pluripotency markers, are capable of in vitro differentiation into the three germ layers, and have a normal karyotype. The mutant and control iPSC lines are available for research purposes.

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Publication Details

Journal
Stem Cell Research
Published
2026-02-19
DOI
https://doi.org/10.1016/j.scr.2026.103944
Primary Topic
Parkinson's Disease Mechanisms and Treatments
Type
article
Field-Weighted Citation Impact
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article

Generation of two isogenic control iPSC lines (LCSBi001-A-2 and LCSBi001-A-3) from a Parkinson’s disease patient line (LCSBi001-A) carrying the pathogenic VPS35 p.D620N mutation

Elizabet Petkovski, Vyron Gorgogietas, Ioanna Boumpoureka, Rejko Krüger et al.
Stem Cell Research
Parkinson's Disease Mechanisms and Treatments
article

Generation of two isogenic control iPSC lines (LCSBi001-A-2 and LCSBi001-A-3) from a Parkinson’s disease patient line (LCSBi001-A) carrying the pathogenic VPS35 p.D620N mutation

Elizabet Petkovski, Vyron Gorgogietas, Ioanna Boumpoureka, Rejko Krüger, George D. Mellick
article en

Abstract

The pathogenic mutation VPS35 p.D620N has been identified to cause autosomal dominant, late-onset Parkinson's disease (PD) in multiple individuals and families worldwide. Here, we describe the generation of two new isogenic control lines (LCSBi001-A-2 and LCSBi001-A-3) from an already established patient-derived line (LCSBi001-A) carrying the heterozygous VPS35 p.D620N mutation. The control lines were generated with CRISPR/Cas9 technology, and the correction of the mutation was verified with Sanger sequencing. Both lines express pluripotency markers, are capable of in vitro differentiation into the three germ layers, and have a normal karyotype. The mutant and control iPSC lines are available for research purposes.

Stem Cell ResearchVol. 92
Griffith University (AU), Centre Hospitalier de Luxembourg (LU), University of Luxembourg (LU), Luxembourg Institute of Health (LU), Laboratoire National de Santé (LU)
Good health and well-being
Openalex Percentile: Top 55%
Parkinson's Disease Mechanisms and Treatments
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