| Literature DB >> 34826737 |
Gabriela Novak1, Steven Finkbeiner2, Gaia Skibinski2, Alexander Skupin3.
Abstract
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.Entities:
Year: 2021 PMID: 34826737 PMCID: PMC9124237 DOI: 10.1016/j.scr.2021.102600
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 1.587