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
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Fang J, Gao Y, Kang Y, Li Y, Chen Q, Chen J, Zhang P |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Feb 15;84:103686 |
| PubMed | 39970510 |
| DOI | 10.1016/j.scr.2025.103686 |