biostudies-literatureNovak GNIA NIH HHSNINDS NIH HHSNational Institutes of HealthMichael J. Fox Foundation for Parkinson's Research102600https://www.ebi.ac.uk/biostudies/studies/S-EPMC9124237biostudies-literatureUnknown57Mutations 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.Stem cell researchGeneration 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).PMC9124237RF1 NS124848P01 AG054407R37 NS101996R01 NS124848RF1 AG058476Finkbeiner SSkibinski GSkupin ANovak GfalseGeneration 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 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.2021-01-01T00:00:00Z2021 Dec2026-05-09T22:37:42.151Z2025-02-19T03:25:59.959ZS-EPMC91242373482673710.1016/j.scr.2021.102600