TY - JOUR
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.
UR - http://www.scopus.com/inward/record.url?scp=85129516423&partnerID=8YFLogxK
UR - https://pubmed.ncbi.nlm.nih.gov/35500378
U2 - 10.1016/j.scr.2022.102792
DO - 10.1016/j.scr.2022.102792
M3 - Article
C2 - 35500378
AN - SCOPUS:85129516423
VL - 62
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 102792
ER -