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Gasparini, G. ; Kraus, C. ; Rusha, E. ; Orschmann, T. ; Wortmann, S.B.* ; Mayr, J.H.* ; Ardissone, A.* ; Iuso, A.

Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.

Stem Cell Res. 90:103892 (2025)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare X-linked dominant disorder (ORPHA:329284) characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration. It results from pathogenic variants inWDR45, encoding WDR45/WIPI4, a key autophagy protein. No curative treatment exists; management is supportive. As BPAN pathogenesis remains unclear, research aims to elucidate its molecular mechanisms and develop targeted therapies. We generated and characterized two induced pluripotent stem cell (iPSC) lines from BPAN patient fibroblasts, providing essential models for studying disease mechanisms and developing effective therapeutic strategies.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
ISSN (print) / ISBN 1873-5061
e-ISSN 1876-7753
Zeitschrift Stem Cell Research
Quellenangaben Band: 90, Heft: , Seiten: , Artikelnummer: 103892 Supplement: ,
Verlag Elsevier
Verlagsort Radarweg 29, 1043 Nx Amsterdam, Netherlands
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen NBIA Disorders Associa-tion and SyNergy Munich Cluster for Systems Neurology grants
Erasmus + Traineeship and FaBiT (Department of Pharmacy and Biotechnology - University of Bologna, Italy)
NBIA Disorders Association