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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
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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.

Original languageEnglish
Article number102792
JournalStem Cell Research
Volume62
DOIs
Publication statusPublished - Jul 2022

Bibliographical note

Funding 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].

Publisher Copyright:
© 2022 The Author(s)

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