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
Year: 2025
Type: article
Abstract: 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.
Source: Stem Cell Research
Authors: Tingting Yin, Ping Dong, XiaoJuan Shi, Zhelan Huang, Xiaohong Guo, Wenhao Zhou, Huijun Wang
Institutions: Children's Hospital of Fudan University, Fudan University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W4415514771