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

doi:10.1016/j.scr.2022.102792

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

Transversal Translational Medicine

Research output: Contribution to journal › Article › Research › peer-review

2 Citations (Scopus)

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 language	English
Article number	102792
Journal	Stem Cell Research
Volume	62
Early online date	26 Apr 2022
DOIs	https://doi.org/10.1016/j.scr.2022.102792
Publication status	Published - Jul 2022

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10.1016/j.scr.2022.102792Licence: CC BY-NC-ND

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

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.",

author = "Pauline Mencke and Ibrahim Boussaad and Gizem {\"O}nal and Kievit, {Anneke J.A.} and Boon, {Agnita J.W.} and Wim Mandemakers and Vincenzo Bonifati and Rejko Kr{\"u}ger",

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: {\textcopyright} 2022 The Author(s)",

year = "2022",

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doi = "10.1016/j.scr.2022.102792",

language = "English",

volume = "62",

journal = "Stem Cell Research",

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T1 - Generation and characterization of a genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A)

AU - Mencke, Pauline

AU - Boussaad, Ibrahim

AU - Önal, Gizem

AU - Kievit, Anneke J.A.

AU - Boon, Agnita J.W.

AU - Mandemakers, Wim

AU - Bonifati, Vincenzo

AU - Krüger, Rejko

N1 - 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)

PY - 2022/7

Y1 - 2022/7

N2 - 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.

AB - 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.

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UR - https://pubmed.ncbi.nlm.nih.gov/35500378

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JO - Stem Cell Research

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M1 - 102792

ER -

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

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