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
Year: 2025
Type: article
Abstract: 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 of a patient with classical PKU carrying a compound heterozygous variant with deep intronic mutation in c.1199 + 502A＞T and c.728G＞A. The resulting iPSCs displayed pluripotency and trilineage differentiation potential. This iPSC line may serve as a valuable model for investigating the underlying mechanism of PKU.
Source: Stem Cell Research
Authors: Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W4412447231