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
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wang Y, An L, Gao H, Zhang C, Wang L, Zhang Y, Zhang L, Yan Y, Jin X, Ma X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 15;87:103778 |
| PubMed | 40706184 |
| DOI | 10.1016/j.scr.2025.103778 |