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

Stem Cell Research 2026 Open access

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Authors: Liselot van der Laan, Rob Zwart, Julia M. Kempff, Nicole Breeuwsma, Imo de Pruyssenaere de la Woestijne, Jaime Houterman, Niels Vos, Irene Valenzuela, manasa Kalya Purushothama, Mieke M. van Haelst, Vivi Majella Heine, Stephanie Dooves
+1 more Peter Henneman
DOI: 10.1016/j.scr.2026.103934
Cited by: 0
References: 3

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.

Fields of Study & Subjects

Pluripotent Stem Cells Research Neurogenesis and neuroplasticity mechanisms Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Stem Cell Research
Volume
92
Pages
103934–103934
Publication date
17 February 2026
Language
EN