Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome
Summary
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. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | van der Laan L, Zwart R, Kempff JM, Breeuwsma N, de Pruyssenaere de la Woestijne I, Houterman J, Vos N, Valenzuela I, Purushothama MK, van Haelst MM, Heine VM, Dooves S, Henneman P |
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| Journal | Stem cell research |
| Publication Date | 2026 Apr;92:103934 |
| PubMed | 41713382 |
| DOI | 10.1016/j.scr.2026.103934 |