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 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.

Authors Novak G, Finkbeiner S, Skibinski G, Skupin A
Journal Stem cell research
Publication Date 2021 Dec;57:102600
PubMed 34826737
PubMed Central PMC9124237
DOI 10.1016/j.scr.2021.102600

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