Article
Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456.
Stem cell research - 1 Feb 2024
Jonsgaard Larsen Lasse, Elisabeth Hjermind Lena, Birk Møller Lisbeth
Abstract excerpt
Disease causing variants in several genes including PINK1 have been identified in hereditary Parkinsońs disease (PD). The mechanism behind this neuronal degeneration is not clarified but it is assumed that mitochondrial dysfunction, e.g. oxidative stress, might be involved. Here we describe the generation of an induced pluripotent stem cell clone (iPSC) KCi005-A from a female PD patient homozygous for the...
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