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.

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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

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article

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

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article

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

Harald Stachelscheid, Katarzyna A. Ludwik, Peter Kühnen, Lara Lechner, Sabine Jyrch, Regina Jahn, Valeria Fernandez Valone
article en

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.

Stem Cell ResearchVol. 88
Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE), Charité - Universitätsmedizin Berlin (DE)
Deutsche Forschungsgemeinschaft
Zero hunger
Openalex Percentile: Top 81%
Pluripotent Stem Cells Research
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