Generation of two induced pluripotent stem cell lines (FDCHi011-A and FDCHi016-A) from different patients with NBIA5 syndrome carrying WDR45 m.700C > T and m.888G > A mutation
Summary
Neurodegeneration with brain iron accumulation-5 (NBIA5) is caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. Peripheral mononuclear blood cells from these patients carrying WDR45 variants (c.888G > A and c.700C > T) were obtained to generate two human induced pluripotent stem cell (iPSC) lines. The two iPSC lines presented typical pluripotent cell morphology and displayed normal karyotypes, were characterized for markers for the identification of undifferentiated hPSCs, and differentiated into three germ layers. Copyright © 2025. Published by Elsevier B.V.
| Authors | Yin T, Dong P, Shi X, Huang Z, Guo X, Zhou W, Wang H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Dec;89:103860 |
| PubMed | 41429710 |
| DOI | 10.1016/j.scr.2025.103860 |