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
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102713 |
| PubMed | 35189566 |
| DOI | 10.1016/j.scr.2022.102713 |