Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation
We generated the human induced pluripotent stem cell (iPSC) line BIHi261-A from dermal fibroblasts of a patient with severe early-onset obesity caused by a homozygous truncating mutation in the POMC gene (W84X). Reprogramming was performed using a non-integrating, RNA-based vector expressing key pluripotency factors. The resulting iPSC line exhibited typical morphology, expressed markers of undifferentiated cells, maintained a normal karyotype, and demonstrated the capacity to differentiate into cell types of all three germ layers. BIHi261-A provides a valuable tool for studying the molecular mechanisms of POMC-related obesity and for developing potential therapeutic strategies.
Authors
- Harald Stachelscheid (ORCID: https://orcid.org/0000-0002-9283-4605)
- Katarzyna A. Ludwik
- Peter Kühnen (ORCID: https://orcid.org/0000-0003-0211-176X)
- Lara Lechner (ORCID: https://orcid.org/0000-0002-9318-6857)
- Sabine Jyrch
- Regina Jahn
- Valeria Fernandez Valone
Institutions
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1016/j.scr.2025.103814
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft