Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation
Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation

Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation

Stem Cell Res. 2025 Aug 22;88:103814. doi: 10.1016/j.scr.2025.103814. Online ahead of print.

ABSTRACT

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.

PMID:40902325 | DOI:10.1016/j.scr.2025.103814