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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

Lasse Jonsgaard Larsen, Lisbeth Birk Møller*

*Corresponding author for this work

Abstract

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.

Original languageEnglish
Article number103175
JournalStem Cell Research
Volume71
Number of pages5
ISSN1873-5061
DOIs
Publication statusPublished - Sept 2023

Keywords

  • Humans
  • Induced Pluripotent Stem Cells/metabolism
  • Male
  • Mitochondria/metabolism
  • Parkinson Disease/genetics
  • Protein Kinases/genetics
  • Ubiquitin-Protein Ligases/genetics

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