Generation of hiPSCs (JUCGRMi008-A) from a β-propeller protein-associated neurodegeneration patient with WDR45 mutation.

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.