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

Autor: Jingjing Xiang, Nana Huang, Qianqian Ouyang, Yuan Yi, Yang Ding, Yu An
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Stem Cell Research, Vol 66, Iss , Pp 102992- (2023)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2022.102992
Popis: 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.
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