Generation and characterization of a genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A)

• Main Authors: Bonifati, V. (Author), Boon, A.J.W (Author), Boussaad, I. (Author), Kievit, A.J.A (Author), Krüger, R. (Author), Mandemakers, W. (Author), Mencke, P. (Author), Önal, G. (Author)
• Format: Article
• Language: English
• Published: Elsevier B.V. 2022
• Online Access: View Fulltext in Publisher
• ISBN: 18735061 (ISSN)
• DOI: 10.1016/j.scr.2022.102792

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. © 2022 The Author(s)