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

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

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...

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Veröffentlicht in:Stem cell research 2023-02, Vol.66, p.102992-102992, Article 102992
Hauptverfasser: Xiang, Jingjing, Huang, Nana, Ouyang, Qianqian, Yi, Yuan, Ding, Yang, An, Yu
Format: Artikel
Sprache:eng
Schlagworte:
Brain - metabolism
Carrier Proteins - genetics
Cell Differentiation
Child
Female
Humans
Induced Pluripotent Stem Cells - metabolism
Leukocytes, Mononuclear - metabolism
Neurodegenerative Diseases - genetics
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102992