Related Experiment Video
Updated: Sep 13, 2025

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
Published on: March 5, 2017
Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling
Katarzyna A Ludwik1, Valeria Fernandez Valone1, Regina Jahn1
1Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Unit pluripotent Stem Cells and Organoids, 13353 Berlin, Germany.
Abstract:
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.
More Related Videos
Related Concept Videos
Induced Pluripotent Stem Cells
Somatic...
iPS Cell Differentiation
Somatic to iPS Cell Reprogramming

