Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene

• Author(s): Marote, Ana Maria Franco Aveiro ; Pomeshchik, Yuriy ; Goldwurm, Stefano ; Collin, Anna ; Lamas, Nuno Jorge ; Pinto, Luísa ; Salgado, A. J. ; Roybon, Laurent
• Date: 2018
• Persistent ID: https://hdl.handle.net/1822/57889
• Origin: RepositóriUM - Universidade do Minho
• Subject(s): Adult; Aged; Cell Differentiation; Cells, Cultured; Cellular Reprogramming; Female; Heterozygote; Humans; Induced Pluripotent Stem Cells; Mutation; Parkinson Disease; Ubiquitin-Protein Ligases
• Document Type: Journal article
• Language: English
• Contributor(s): Universidade do Minho

Description

Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.