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Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene
Creating two human stem cell lines from skin cells of BPAN patients with harmful WDR45 gene changes
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Abstract
Two induced pluripotent stem cell (iPSC) lines were generated from BPAN patient fibroblasts.
- Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare disorder linked to pathogenic variants in the WDR45 gene.
- BPAN is characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration.
- The role of WDR45 in autophagy may be crucial to understanding BPAN's pathogenesis.
- Current management of BPAN is supportive, as no curative treatment exists.
- The generated iPSC lines could serve as valuable models for studying BPAN mechanisms and developing targeted therapies.
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