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)

Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson’s disease (PD) 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...

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Autores principales: Novak, Gabriela, Finkbeiner, Steven, Skibinski, Gaia, Skupin, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9124237/
https://www.ncbi.nlm.nih.gov/pubmed/34826737
http://dx.doi.org/10.1016/j.scr.2021.102600
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author Novak, Gabriela
Finkbeiner, Steven
Skibinski, Gaia
Skupin, Alexander
author_facet Novak, Gabriela
Finkbeiner, Steven
Skibinski, Gaia
Skupin, Alexander
author_sort Novak, Gabriela
collection PubMed
description Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson’s disease (PD) 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.
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spelling pubmed-91242372023-05-22 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) Novak, Gabriela Finkbeiner, Steven Skibinski, Gaia Skupin, Alexander Stem Cell Res Article Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson’s disease (PD) 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. 2021-11-22 /pmc/articles/PMC9124237/ /pubmed/34826737 http://dx.doi.org/10.1016/j.scr.2021.102600 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Novak, Gabriela
Finkbeiner, Steven
Skibinski, Gaia
Skupin, Alexander
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)
title 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)
title_full 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)
title_fullStr 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)
title_full_unstemmed 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)
title_short 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)
title_sort 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)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9124237/
https://www.ncbi.nlm.nih.gov/pubmed/34826737
http://dx.doi.org/10.1016/j.scr.2021.102600
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