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

诱导性多能干细胞系 FDHPIi001-A 的生成,该细胞系来源于一名患有 WDR45 相关神经退行性疾病的女性患者,该患者携带非典型剪接位点 c.344 + 5G > T

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作者:Jingjing Xiang, Nana Huang, Qianqian Ouyang, Yuan Yi, Yang Ding, Yu An

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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