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01449nam a2200217Ia 4500 |
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10.1016-j.scr.2022.102792 |
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220706s2022 CNT 000 0 und d |
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|a 18735061 (ISSN)
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|a Generation and characterization of a genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A)
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|b Elsevier B.V.
|c 2022
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|z View Fulltext in Publisher
|u https://doi.org/10.1016/j.scr.2022.102792
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|a 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)
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|a Bonifati, V.
|e author
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|a Boon, A.J.W.
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|a Boussaad, I.
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|a Kievit, A.J.A.
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|a Krüger, R.
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|a Mandemakers, W.
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|a Mencke, P.
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|a Önal, G.
|e author
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|t Stem Cell Research
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