Generation and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45

Abstract

β-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease with developmental retardation, epilepsy and extrapyramidal symptoms, associated with mutations in WDR45. In this article, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) of a 3-year-old girl who carries a splice site mutation c.827 + 1G > A in WDR45. The generated iPSC exhibited high expression of pluripotency genes, a normal karyotype, good ability of embryoid bodies differentiation.