Generation of an induced pluripotent stem cell line FDHPIi001-A derived from a female patient with WDR45-related neurodegeneration disease carrying non-canonical splice site c.344 + 5G > T


The WDR45 encodes a beta-propeller scaffold protein which leads to β-propeller protein-associated neurodegeneration (BPAN) with iron accumulation in the brain. Using episomal reprogramming approach, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) from a 9-year-old girl with a non-canonical splice site c.344 + 5G > T in the WDR45 gene. The iPSC line had been fully examined about pluripotency marker, karyotype, and three germ layer differentiation. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Xiang J, Huang N, Ouyang Q, Yi Y, Ding Y, An Y
Journal Stem cell research
Publication Date 2022 Dec 6;66:102992
PubMed 36502619
DOI 10.1016/j.scr.2022.102992

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