Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson’s disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)

• Published in: Stem cell research Vol. 61; p. 102765
• Main Authors: Novak, Gabriela, Finkbeiner, Steven, Skibinski, Gaia, Bernini, Michela, Donato, Cristina, Skupin, Alexander
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.05.2022; Elsevier
• Subjects: Comparative Genomic Hybridization; Dopaminergic Neurons - metabolism; Female; Fibroblasts - metabolism; Humans; Induced Pluripotent Stem Cells - metabolism; Male; Middle Aged; Mutation - genetics; Parkinson Disease - genetics; Parkinson Disease - metabolism; Protein Kinases - genetics; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102765

Mutations in PINK1 and Parkin are two of the main causes of recessive early-onset Parkinson’s disease (PD). We generated human induced pluripotent stem cells (hiPSCs) from fibroblasts of a 64-year-old male patient with a homozygous ILE368ASN mutation in PINK1, who experienced disease onset at 33 years, and from fibroblasts of a 61-year-old female patient heterozygous for the R275W mutation in Parkin, who experienced disease onset at 44 years. Array comparative genomic hybridization (aCGH) determined genotypic variation in each line. The cell lines were successfully used to generate midbrain dopaminergic neurons, the neuron type primarily affected in PD.