Generation of a human induced pluripotent stem cell line (iPSC) from a patient with Clark-Baraitser Syndrome
Clark-Baraitser Syndrome (CLABARS) is an autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the TRIP12 gene. Research into the molecular mechanisms of CLABARS has been limited by the lack of suitable human model systems. In this study, we introduce an induced pluripotent stem cell (iPSC) line derived from a CLABARS patient, providing a promising model to investigate mechanisms of altered cell lineage commitment during disease progression.
Authors
- Vivi M. Heine (ORCID: https://orcid.org/0000-0003-4416-3875)
- Lotte Kleinendorst (ORCID: https://orcid.org/0000-0001-9106-7478)
- Stephanie Dooves (ORCID: https://orcid.org/0000-0002-8090-766X)
- Peter Henneman (ORCID: https://orcid.org/0000-0003-2179-7808)
- Liselot van der Laan (ORCID: https://orcid.org/0000-0002-7800-8665)
- manasa Kalya Purushothama
- Nicole Breeuwsma
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0002-7519-0246)
- Rob Zwart
- Julia Kempff
- Imo de Pruyssenaere de la Woestijne
- Jaime Houterman
Institutions
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-04-27
- DOI
- https://doi.org/10.1016/j.scr.2026.104003
- Primary Topic
- Bone Tumor Diagnosis and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00