Generation of three hiPSC clones from a Parkinson’s disease patient with a heterozygous variant of VPS35 p.D620N

[摘要] 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 (iPSC) lines from a patient harboring a heterozygous VPS35 c.1858G > A (p.D620N) variant. The derived iPSCs showed pluripotency, the capacity to differentiate into three germ layers, and normal karyotypes.

[学科分类] 生理学