Article
Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).
Stem cell research - 1 Aug 2026
Tournois Johana, Chatrousse Laure, Giraud-Triboult Karine, Rousselot Justine, El Kassar Lina, Lesueur Léa, Mahiou Hamel, Bouquier Margot, Walter Ludivine, Mollereau Bertrand, Beaumont Anaïs, Portes Vincent des, Poulat Anne-Lise, Lesca Gaetan, Benchoua Alexandra
Abstract excerpt
WDR45 encodes WIPI-4, a β-propeller scaffold protein involved in autophagy regulation. Pathogenic variants in WDR45 lead to β-propeller protein-associated neurodegeneration (BPAN), a form of neurodegeneration with brain iron accumulation (NBIA). Through an integration-free reprogramming approach, we generated six hiPSC lines derived from 4 different patients of both genders carrying different mutations. The six...
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