Article
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.
Stem cell research - 1 Mar 2018
Marote Ana, Pomeshchik Yuriy, Goldwurm Stefano, Collin Anna, Lamas Nuno J, Pinto Luísa, Salgado António J, Roybon Laurent
Abstract excerpt
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,...
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