Generation of hiPSCs (JUCGRMi008-A) from a β-propeller protein-associated neurodegeneration patient with WDR45 mutation
Summary
The WDR45 gene encodes WIPI4, a protein that plays a crucial role in autophagy. Mutations in WDR45 lead to excessive iron deposition in the central nervous system, resulting in β-propeller protein-associated neurodegeneration (BPAN) which is characterized by progressive dystonia and Parkinsonism. In this study, we established an induced pluripotent stem cell (iPSC) line from a BPAN patient with WDR45 mutation. The iPSC line exhibited typical morphology, a normal karyotype, expression of markers of the undifferentiated hPSC state, and the capacity to differentiate into all three germ layers. The point mutation in the splice site of exon 7 was also confirmed. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kamikura R, Liu X, Ishikawa KI, Yoshino H, Hattori N, Akamatsu W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 May 10;94:104012 |
| PubMed | 42119323 |
| DOI | 10.1016/j.scr.2026.104012 |