Work

Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome

Year: 2026

Type: article

Abstract: Hao-Fountain Syndrome (HAFOUS) is an autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the USP7 gene. Research into the molecular mechanisms of HAFOUS has been limited by the lack of suitable human model systems. In this study, we introduce induced pluripotent stem cell (iPSC) lines derived from a HAFOUS patient, providing a valuable model to investigate mechanisms of altered cell lineage commitment during disease progression. This model offers a platform to explore the role of USP7 variants in HAFOUS pathogenesis and develop potential therapeutic strategies.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.103934