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.
| Reference Key |
xiang2022generationstem
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| 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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