RESEARCH / DISCOVERY
← Back to the library

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.

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.

Read the original publication

Where did the research take place?

The study site has not been established. Author addresses may differ from where the research occurred.

Luxembourg, LU · Author affiliation

Transversal Translational Medicine, Luxembourg Institute of Health (LIH), 1 A-B Rue Thomas Edison, 1445 Strassen, Luxembourg; Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), 6 Avenue Du Swing, 4367 Esch-Belval, Luxembourg. Electronic address: ioanna.boumpoureka@lih.lu.
Location evidence

Dudelange, LU · Author affiliation

Forensic Genetics Service, Laboratoire National de Santé, 1 Rue Louis Rech, 3555 Dudelange, Luxembourg.
Location evidence

Griffith, AU · Author affiliation

Institute for Biomedicine and Glycomics, Griffith University, 170 Kessels Rd, QLD 4111 Nathan, Australia.
Location evidence

Explore research worldwide

A plain-language reading has not been prepared for this paper yet.

Original 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.

Explore another example or bring your own paper

Pasted text and PDF extraction stay on this computer. The local guide explains terms and surfaces passages; rewriting requires a configured local model. Scanned PDFs need OCR first.

RECORD & PROVENANCE