Establishment and characterization of human induced pluripotent stem cell line from a Parkinson's disease patient harboring VPS13A gene mutation
Summary
Mutations in VPS13 gene have been recently reported as a genetic cause of Parkinson's disease (PD). In this study, we isolated the skin fibroblasts from a PD patient harboring VPS13A gene mutation (c. 4282_4289delinsA) and reprogrammed the fibroblasts to a novel patient-specific induced pluripotent stem cell (iPSC) line LCPHi002-A using transgene-free episomal plasmids to express OCT3/4, SOX2, KLF4, L-MYC, and LIN28. The LCPHi002-A line showed the normal karyotype, expression of pluripotency markers, and had multi-lineage differentiation capacity in vivo. This iPSC line of LCPHi002-A could be used for studying pathogenic mechanisms of PD. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Lu X, Wang W, Liu Y, Song N, Li M, Mu X, Zhang N, Chen Q, Jiang L, Kong X, Sun P, Tong J, Zhang Y, Li J, Ma S, Han F |
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| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102685 |
| PubMed | 35093716 |
| DOI | 10.1016/j.scr.2022.102685 |