DefiniGEN MODY3 Diabetes human pancreatic cells display a mutation in the HNF1-alpha transcription factor gene, specifically an insertion of C at codon 872 producing a frameshift mutation. MODY3 (also known as HNF1a-MODY) is caused by mutations in the HNF1-alpha gene which is a key regulatory transcription factor controlling the downstream regulation of multiple genes involved in the differentiation of beta cells. These cell products can empower disease modelling and drug discovery researchers with unique tools for use in mechanistic studies of MODY. Our custom services can also engineer bespoke mutations for additional forms of the eleven known types of MODY.
- Highly standardized cell product containing >97% human pancreatic cells with consistent performance and biologically relevant data
- Disease circuit verified confirmed mutation in the HNF1-alpha transcription factor gene – insertion of C at codon 872 producing a frameshift mutation
- Phenotypic analysis of the cells using GSIS assays demonstrates that the insulin response to glucose challenge is dysfunctional in these disease modelled cell products in contrast to DefiniGEN’s isogenic wild-type control pancreatic cell products.
Def-PANC MODY3 Cell Morphology
In contrast to Def-PANC WT cells which display normal tightly packed pancreatic cell morphology. Def-PANC MODY3 cells display aberrant morphology expected from developmental retardation caused by the HNF1a mutation.
Disease circuit verification
MODY3 pancreatic disease model with mutation in HNF1-alpha transcription factor gene – insertion of C at codon 872 producing frameshift mutation – isogenic control available.
GLUT + PKLR Expression Analysis
The expected down regulation of pancreatic cell function gene sets is observed in Def-PANC MODY3 cells in both the disease model variants.
Pancreatic Key Marker Analysis
The expression of crucial pancreatic genes in sequentially reduced in dsiease modelled Def-PANC cells.