Literature DB >> 34826737

Generation of two human induced pluripotent stem cell lines (iPSCs) with mutations of the α-synuclein (SNCA) gene associated with Parkinson's disease; the A53T mutation (LCSBi003) and a triplication of the SNCA gene (LCSBi007).

Gabriela Novak1, Steven Finkbeiner2, Gaia Skibinski2, Alexander Skupin3.   

Abstract

Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson's disease and SNCA inclusions are strongly associated with PD. Fibroblasts from a 51-year-old female patient with disease onset at 39 years, carrying the A53T SNCA mutation (LCSBi003, ND40996), and fibroblasts with a triplication of the SNCA gene obtained from a 55-year-old female patient with disease onset at 52 years (LCSBi007, ND27760), were reprogrammed into human induced pluripotent stem cells (iPSCs) using Sendai virus. The presence of other genetic variants was determined using array comparative genomic hybridization. Presence of SNCA triplication was confirmed by FISH analysis.
Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2021        PMID: 34826737      PMCID: PMC9124237          DOI: 10.1016/j.scr.2021.102600

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   1.587


  4 in total

1.  Generation of two human induced pluripotent stem cell lines from fibroblasts of unrelated Parkinson's patients carrying the G2019S mutation in the LRRK2 gene (LCSBi005, LCSBi006).

Authors:  Gabriela Novak; Steven Finkbeiner; Gaia Skibinski; Alexander Skupin
Journal:  Stem Cell Res       Date:  2021-10-12       Impact factor: 2.020

Review 2.  Molecular mechanisms of alpha-synuclein neurodegeneration.

Authors:  Elisa A Waxman; Benoit I Giasson
Journal:  Biochim Biophys Acta       Date:  2008-10-09

Review 3.  Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Authors:  Simona Petrucci; Monia Ginevrino; Enza Maria Valente
Journal:  Parkinsonism Relat Disord       Date:  2015-08-18       Impact factor: 4.891

4.  Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease.

Authors:  Gabriela Novak; Dimitrios Kyriakis; Kamil Grzyb; Michela Bernini; Sophie Rodius; Gunnar Dittmar; Steven Finkbeiner; Alexander Skupin
Journal:  Commun Biol       Date:  2022-01-13
  4 in total

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