Stem Cell Research (Jul 2022)

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

  • Pauline Mencke,
  • Ibrahim Boussaad,
  • Gizem Önal,
  • Anneke J.A. Kievit,
  • Agnita J.W. Boon,
  • Wim Mandemakers,
  • Vincenzo Bonifati,
  • Rejko Krüger

Journal volume & issue
Vol. 62
p. 102792

Abstract

Read online

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.