Generation of a human iPSC line (CIBi013-A) from a patient with young-onset Parkinson's disease carrying a novel homozygous PARK7 (DJ-1) mutation
Summary
Mutations in PARK7 and the resulting alterations in its production protein (DJ-1) are tightly associated with Parkinson's disease. We generated a human induced pluripotent stem cell (iPSC) line (CIBi013-A) from a patient with young-onset Parkinson's disease (YOPD) who carried a novel homozygous PARK7 (DJ-1) mutation (chr1:8037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li L, Si X, Lei M, Yang J, Ruan J, Liu H, Huang F, Jin X, Xie K, Yang H, Lei X, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:102983 |
| PubMed | 36469984 |
| DOI | 10.1016/j.scr.2022.102983 |