Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling
Summary
We report the generation of a genetically corrected induced pluripotent stem cell (iPSC) line, BIHi261-A-1, derived from the patient-specific iPSC line BIHi261-A carrying a homozygous truncating mutation in the POMC gene (POMC:W84X). This mutation causes monogenic obesity by disrupting proopiomelanocortin function. The pathogenic variant was corrected using CRISPR-Cas9 editing. The resulting iPSC line maintained a normal karyotype, expressed pluripotency markers, and retained the ability to differentiate into all three germ layers. BIHi261-A-1 provides valuable isogenic control for disease modeling and therapeutic research targeting POMC-related obesity and hypothalamic regulation of energy homeostasis. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ludwik KA, Valone VF, Jahn R, Jyrch S, Lechner L, Kühnen P, Stachelscheid H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 25;87:103786 |
| PubMed | 40752254 |
| DOI | 10.1016/j.scr.2025.103786 |