Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ishikawa KI, Ishiguro M, Li Y, Nishioka K, Hattori N, Akamatsu W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102739 |
| PubMed | 35247840 |
| DOI | 10.1016/j.scr.2022.102739 |