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April 7, 2026Stem Cell Research1 citationsOpen Access

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

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JTJohana TournoisLCLaure ChatrousseKGKarine Giraud-Triboult

Key Points

  • The aim is to create hiPSC lines from patients with BPAN to explore disease mechanisms.
  • Used an integration-free reprogramming approach
  • Obtained six hiPSC lines from four different patients
  • Included patients of both genders carrying different mutations
  • Established six new hiPSC lines contributing to BPAN research
  • Lines enable further investigation into disease pathology
  • Pave the way for new therapeutic approaches

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.

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Cite This Study

Tournois et al. (2026) studied this question.

synapsesocial.com/papers/69d49f44b33cc4c35a227c12https://doi.org/10.1016/j.scr.2026.103985
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