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

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.

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Publication Details

Journal
Stem Cell Research
Published
2025-10-22
DOI
https://doi.org/10.1016/j.scr.2025.103860
Primary Topic
Neurological diseases and metabolism
Type
article
Field-Weighted Citation Impact
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article

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

Xiaohong Guo, Xiaomeng Shi, Tingting Yin, Huijun Wang et al.
Stem Cell Research
Neurological diseases and metabolism
article

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

Xiaohong Guo, Xiaomeng Shi, Tingting Yin, Huijun Wang, Ping Dong, Wenhao Zhou, Zhelan Huang
article en

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.

Stem Cell ResearchVol. 89
Children's Hospital of Fudan University (CN)
Openalex Percentile: Top 62%
Neurological diseases and metabolism
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