Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method


The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson's disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a pathogenic Ala53Thr missense mutation in the SNCA gene. Human dermal fibroblasts were reprogrammed using a non-integrating episomal method. The generated iPSC line (EURACi014-A; iPS-1.1) shows expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. Hence, this line represents a valuable resource for the study and modeling of the processes directly controlled by aSyn. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Gilmozzi V, Gentile G, Riekschnitz DA, Volpato CB, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I, Zanon A
Journal Stem cell research
Publication Date 2022 Apr;60:102713
PubMed 35189566
DOI 10.1016/j.scr.2022.102713

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