Article
Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N.
Stem cell research - 1 Apr 2022
Ishikawa Kei-Ichi, Ishiguro Mayu, Li Yuanzhe, Nishioka Kenya, Hattori Nobutaka, Akamatsu Wado
Abstract excerpt
Approximately 10% of Parkinson's disease cases are familial and more than 20 disease-related genes have been identified. The VPS35 gene causes a rare type of Parkinson's disease called PARK17, which is inherited in an autosomal dominant manner. The VPS35 gene encodes a retromer complex, but the pathogenic mechanism involved in PARK17 is unknown. Here, we established three isogenic induced pluripotent stem cell...
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