Reference : Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's d...
Scientific journals : Article
Life sciences : Biochemistry, biophysics & molecular biology
Systems Biomedicine
http://hdl.handle.net/10993/45135
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.
English
Barbuti, Peter mailto [> >]
Santos, Bruno mailto []
Dording, Claire [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Cruciani, Gérald mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience >]
Massart, François mailto [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 mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
Oct-2020
Stem cell research
48
101951
Yes (verified by ORBilu)
International
1873-5061
1876-7753
England
[en] Parkinson’s disease ; SNCA ; iPSC
[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.
Researchers ; Students
http://hdl.handle.net/10993/45135
10.1016/j.scr.2020.101951
https://www.sciencedirect.com/science/article/pii/S187350612030252X?via%3Dihub#s0015
OA
Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

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