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
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Xiang J, Huang N, Ouyang Q, Yi Y, Ding Y, An Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:102992 |
| PubMed | 36502619 |
| DOI | 10.1016/j.scr.2022.102992 |