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 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...

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Autores principales:	Gabriela Novak, Steven Finkbeiner, Gaia Skibinski, Alexander Skupin
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/d700714bf5cf45debcb51719cfb2ca59
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spelling	oai:doaj.org-article:d700714bf5cf45debcb51719cfb2ca592021-11-26T04:26:02ZGeneration 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)1873-506110.1016/j.scr.2021.102600https://doaj.org/article/d700714bf5cf45debcb51719cfb2ca592021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1873506121004475https://doaj.org/toc/1873-5061Mutations 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.Gabriela NovakSteven FinkbeinerGaia SkibinskiAlexander SkupinElsevierarticleBiology (General)QH301-705.5ENStem Cell Research, Vol 57, Iss , Pp 102600- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Gabriela Novak Steven Finkbeiner Gaia Skibinski Alexander Skupin 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)
description	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.
format	article
author	Gabriela Novak Steven Finkbeiner Gaia Skibinski Alexander Skupin
author_facet	Gabriela Novak Steven Finkbeiner Gaia Skibinski Alexander Skupin
author_sort	Gabriela Novak
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_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_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_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)
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/d700714bf5cf45debcb51719cfb2ca59
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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)

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