Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development. In this study, we generated a human-induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells o...

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Autores principales:	Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 2025-09-01
Colección:	Stem Cell Research
Materias:	Phenylketonuria iPSC Deep intronic variant
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S187350612500128X
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