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

Larsen, Simone; Hanss, Zoé; Cruciani, Gérald; Massart, François; Barbuti, Peter; Mellick, George; Krüger, Rejko

doi:10.1016/j.scr.2020.101776

Article (Scientific journals)

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

Larsen, Simone; Hanss, Zoé; Cruciani, Gérald et al.

2020 • In Stem Cell Research

Peer Reviewed verified by ORBi

Permalink
https://hdl.handle.net/10993/43432

DOI
10.1016/j.scr.2020.101776

PubMed
32387898

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Keywords :

iPSC; VPS35; Parkinson

Abstract :

[en] 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.

Disciplines :

Biochemistry, biophysics & molecular biology

Author, co-author :

Larsen, Simone ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)

Hanss, Zoé ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)

Cruciani, Gérald ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)

Massart, François ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)

Barbuti, Peter ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)

Mellick, George; Griffith University > Griffith Institute for Drug Discovery

Krüger, Rejko ; University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit

External co-authors :

yes

Language :

English

Title :

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

Publication date :

04 April 2020

Journal title :

Stem Cell Research

ISSN :

1876-7753

Publisher :

Elsevier, Amsterdam, Netherlands

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://www.sciencedirect.com/science/article/pii/S1873506120300805?via%3Dihub

European Projects :

H2020 - 692320 - CENTRE-PD - TWINNING for a Comprehensive Clinical Centre for the Diagnosis and Treatment of Parkinson's Disease

FnR Project :

FNR6682797 - Comprehensive Assessment Of Endophenotypes In Neurodegenerative Diseases - Translating Impaired Molecular Signalling Pathways Into Novel Therapeutic Strategies For Parkinson'S Disease, 2013 (01/06/2014-31/05/2019) - Rejko Krüger

Funders :

FNR - Fonds National de la Recherche [LU]
H2020
CE - Commission Européenne [BE]

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since 07 June 2020

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