Generation and characterization of a genetic Parkinson’s disease-patient derived iPSC line DJ-1-delP (LCSBi008-A)
Pauline Mencke, Ibrahim Boussaad, Gizem Önal and 5 more
Stem Cell Research · 2022
doi:10.1016/j.scr.2022.102792 (opens in a new tab)
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Abstract
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.
Abstract licence: CC BY-NC
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