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.

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2022
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Abstract
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.
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xiang2022generationstem Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Xiang, Jingjing;Huang, Nana;Ouyang, Qianqian;Yi, Yuan;Ding, Yang;An, Yu;
Journal Stem cell research
Year 2022
DOI
10.1016/j.scr.2022.102992
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