Reference : Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's d...

	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Biochemistry, biophysics & molecular biology
	Focus Areas :	Systems Biomedicine
	To cite this reference:	http://hdl.handle.net/10993/45135

Title :	Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's disease patient carrying the heterozygous p.A30P mutation in SNCA.
Language :	English
Author, co-author :	Barbuti, Peter [> >]
	Santos, Bruno []
	Dording, Claire [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
	Cruciani, Gérald [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience >]
	Massart, François [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience >]
	Hummel, Andreas [Department of Neurodegeneration, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.]
	Krüger, Rejko [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
Publication date :	Oct-2020
Journal title :	Stem cell research
Volume :	48
Pages :	101951
Peer reviewed :	Yes (verified by ORBilu)
Audience :	International
ISSN :	1873-5061
e-ISSN :	1876-7753
Country :	England
Keywords :	[en] Parkinson’s disease ; SNCA ; iPSC
Abstract :	[en] Dermal fibroblasts from a patient carrying a heterozygous c.88G > C mutation in the SNCA gene that encodes alpha-synuclein were reprogrammed to pluripotency by retroviruses. This pathogenic mutation generates the p.A30P form of the alpha-synuclein protein leading to autosomal dominantly inherited Parkinson's disease (PD). Two clonal iPS cell lines were generated (A30P-3 and A30P-4) and characterised by validating the silencing of viral transgenes, the expression of endogenous pluripotency genes, directed differentiation into three germ layers in-vitro and a stable molecular genotype. These iPSC lines will serve as a valuable resource in determining the role of the p.A30P SNCA mutation in PD pathogenesis.
Target :	Researchers ; Students
Permalink :	http://hdl.handle.net/10993/45135
DOI :	10.1016/j.scr.2020.101951
Other URL :	https://www.sciencedirect.com/science/article/pii/S187350612030252X?via%3Dihub#s0015
Mentions required by the publisher for OA :	OA
Commentary :	Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

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