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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).
Novak, Gabriela; Finkbeiner, Steven; Skibinski, Gaia; Skupin, Alexander.
Afiliación
  • Novak G; The Integrative Cell Signalling Group, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA. Electronic address: gabriela.novak@alumni.utor
  • Finkbeiner S; Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA.
  • Skibinski G; Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA.
  • Skupin A; The Integrative Cell Signalling Group, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Stem Cell Res ; 57: 102600, 2021 Nov 22.
Article en En | MEDLINE | ID: mdl-34826737
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.

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido