Literature DB >> 32387897

Generation of three induced pluripotent stem cell lines from a Parkinson's disease patient with mutant PARKIN (p. C253Y).

Muqddas Tariq1, Hao Liu2, David P Ibañez1, Yunpan Li2, Shuhan Chen1, Mengling Jiang2, Wenxia Fan3, Ping Zhao4, Zhiwei Luo3, Dongye Wang2, Shahzina Kanwal5.   

Abstract

Parkinson's disease (PD) is one of the most common neurodegenerative disorders and is characterized by the progressive degeneration of dopaminergic (DA) neurons in the substantia nigra. Loss of function mutations in PARK2 cause familial PD in an autosomal recessive manner. PARK2 encodes an E3 ubiquitin ligase that is involved in regulation of mitochondrial homeostasis. However, the mechanistic links between PARK2 mutations and dopaminergic neuron degeneration are unclear. Here, we have generated three patient-derived induced pluripotent stem cell (iPSC) lines from the same donor with mutant PARKIN (p. C253Y). These well characterized cell lines will facilitate the study of PARKIN function in disease relevant cell types in vitro.
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

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Year:  2020        PMID: 32387897     DOI: 10.1016/j.scr.2020.101822

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  1 in total

1.  Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons.

Authors:  Aurelie Schwartzentruber; Camilla Boschian; Fernanda Martins Lopes; Monika A Myszczynska; Elizabeth J New; Julien Beyrath; Jan Smeitink; Laura Ferraiuolo; Heather Mortiboys
Journal:  Sci Rep       Date:  2020-09-23       Impact factor: 4.379

  1 in total

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