Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ludwik KA, Jahn R, Jyrch S, Lechner L, Valone VF, Kühnen P, Stachelscheid H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Aug 22;88:103814 |
| PubMed | 40902325 |
| DOI | 10.1016/j.scr.2025.103814 |