Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinson's disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456


Disease causing variants in PINK1 lead to Parkinson's disease (PD) with early age of onset and slow disease progression. Loss of mitochondrial function is a signal of bioenergetic stress, PINK1 accumulates on the outer mitochondrial membrane and initiates ubiquitination and degradation of damaged mitochondria by mitophagy. Here we describe the successful generation of an induced pluripotent stem cell line (iPSC) KCi004-A from a PD patient homozygous for the disease- causing variant c.1366C > T, p.Gln456* in PINK1. For the generation we transfect a fibroblast culture from the patient with a non-integrative self-replicating RNA vector. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Jonsgaard Larsen L, Birk Møller L
Journal Stem cell research
Publication Date 2023 Sep;71:103175
PubMed 37524028
DOI 10.1016/j.scr.2023.103175

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