Literature DB >> 32387898

Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35.

Simone B Larsen1, Zoé Hanss2, Gérald Cruciani1, François Massart1, Peter A Barbuti3, George Mellick4, Rejko Krüger5.   

Abstract

Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.
Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2020        PMID: 32387898     DOI: 10.1016/j.scr.2020.101776

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


  2 in total

1.  Mitochondria interaction networks show altered topological patterns in Parkinson's disease.

Authors:  Massimiliano Zanin; Bruno F R Santos; Paul M A Antony; Clara Berenguer-Escuder; Simone B Larsen; Zoé Hanss; Peter A Barbuti; Aidos S Baumuratov; Dajana Grossmann; Christophe M Capelle; Joseph Weber; Rudi Balling; Markus Ollert; Rejko Krüger; Nico J Diederich; Feng Q He
Journal:  NPJ Syst Biol Appl       Date:  2020-11-10

2.  Mitochondrial and Clearance Impairment in p.D620N VPS35 Patient-Derived Neurons.

Authors:  Zoé Hanss; Simone B Larsen; Paul Antony; Pauline Mencke; François Massart; Javier Jarazo; Jens C Schwamborn; Peter A Barbuti; George D Mellick; Rejko Krüger
Journal:  Mov Disord       Date:  2020-11-03       Impact factor: 10.338

  2 in total

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