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)

• DOI: 10.1016/j.scr.2022.102765
• Publication Date: 2022-03-29T06:10:25Z
• Authors: Gabriela Novak; Steven Finkbeiner; Gaia Skibinski; Michela Bernini; Cristina Donato; Alexander Skupin
• Keywords: PINK1

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