WDR45 mutasyonu olan beta-propeller protein ilişkili nörodejenerasyon hastadan hiPSC'lerin (JUCGRMi008-A) üretilmesi.

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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.

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