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Updated: May 4, 2026

Selecting and Isolating Colonies of Human Induced Pluripotent Stem Cells Reprogrammed from Adult Fibroblasts
Published on: February 20, 2012
Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome
Liselot van der Laan1, Rob Zwart1, Julia M Kempff2
1Department of Human Genetics, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
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.
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