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)

Gabriela Novak; Steven Finkbeiner; Gaia Skibinski; Alexander Skupin

doi:10.1016/j.scr.2021.102600

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)

Stem Cell Res. 2021 Dec:57:102600. doi: 10.1016/j.scr.2021.102600. Epub 2021 Nov 22.

Authors

Gabriela Novak¹, Steven Finkbeiner², Gaia Skibinski², Alexander Skupin³

Affiliations

¹ 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.utoronto.ca.
² Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA.
³ The Integrative Cell Signalling Group, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.

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.

Abstract

Grants and funding