[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.
Disciplines :
Biochimie, biophysique & biologie moléculaire
Auteur, co-auteur :
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
Co-auteurs externes :
yes
Langue du document :
Anglais
Titre :
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.
