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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.

Stem cell research(2022)

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摘要
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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