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 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.
Authors
- Xu Ma (ORCID: https://orcid.org/0000-0001-7674-3589)
- Xiaohua Jin (ORCID: https://orcid.org/0000-0002-8608-0755)
- Yousheng Yan (ORCID: https://orcid.org/0000-0002-0405-1302)
- Pengfei Zhang (ORCID: https://orcid.org/0000-0003-4437-8112)
- Chuan Zhang (ORCID: https://orcid.org/0000-0002-4403-4830)
- Lin Wang (ORCID: https://orcid.org/0000-0001-7787-904X)
- Yanping Zhang (ORCID: https://orcid.org/0000-0003-4338-2697)
- Yu Wang (ORCID: https://orcid.org/0000-0003-3151-0778)
- Lisha An
- Huimin Gao (ORCID: https://orcid.org/0009-0000-1470-1914)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Genetic Resources Center (JP)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- Beijing Obstetrics and Gynecology Hospital (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1016/j.scr.2025.103778
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00