Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN)

Stem Cell Research 2026 Open access

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Authors: Johana Tournois, Laure Chatrousse, Karine Giraud-Triboult, Justine Rousselot, Lina El Kassar, Léa Lesueur, Hamel Mahiou, Margot Bouquier, Ludivine Walter, Bertrand Mollereau, Anaïs Beaumont, Vincent des Portes
+3 more Anne‐Lise Poulat, Gaetan Lesca, Alexandra Benchoua
DOI: 10.1016/j.scr.2026.103985
Cited by: 1
References: 6

Abstract

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 cell lines will contribute to a better understanding of the pathology and pave the way for the development of new therapeutic approaches.

Fields of Study & Subjects

Neurological diseases and metabolism Prion Diseases and Protein Misfolding Metalloenzymes and iron-sulfur proteins

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
94
Pages
103985–103985
Publication date
5 April 2026
Language
EN