Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson's disease (PD) patient. The disease was caused by a c.634-636delGCC mutation in the PARK7 gene leading to p.158P deletion in the protein DJ-1. iPSCs were generated via electroporation using three episomal plasmids encoding human Oct3/4, Sox2, Klf4, Lin28, L-Myc combined with a short hairpin RNA for p53. The presence of the c.471_473delGCC mutation in exon 7 of PARK7 was confirmed by Sanger sequencing. The iPSCs express pluripotency markers, are capable of in vitro differentiation into the three germ layers and obtain karyotypic integrity.
|Journal||Stem Cell Research|
|Publication status||Published - Jul 2022|
Bibliographical noteFunding Information:
The current work was supported by the Fonds National de Recherche (FNR) within the PEARL Excellence Programme [FNR/P13/6682797] to RK, and the MiRisk project [C17/BM/11676395], and by the Stichting ParkinsonFonds, The Netherlands [grant SPF-1870].
© 2022 The Author(s)