| Autor: |
Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Claudia B. Volpato, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 60, Iss , Pp 102713- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102713 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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