Loading patent…
AssigneeQatar Foundation for Education, Science and Community Development
InventorsEssam M. Abdelalim, Ahmed K. Elsayed, Khalid Hussain
Estimating the term…
The present disclosure generally relates to the method of generating human induced pluripotent stem cells (hiPSC) from patients with either heterozygous deletion of the FOX2A gene or GLUT2 (SLC2A2) gene mutations. The methods disclosed herein generate human cell models for diabetes, Fanconi Bickel Syndrome (FBS), dysmporphic features, growth hormone deficiency, central hypothyroidism, and related disorders. The methods disclosed herein generate patient-specific iPSC cell lines that could be used by researchers to perform mechanistic studies, drug screening, and understanding the role of GLUT2 or FOXA2 in specific human cell types.
A method of generating human induced pluripotent stem cells (hiPSCs) with a heterozygous deletion of the FOX2A gene comprising exposing patient-derived peripheral blood mononuclear cells (PBMC) containing a heterozygous deletion of FOXA2 to means for inducing pluripotency.
An isolated population of hiPSC, containing a heterozygous deletion of FOXA2.
A method of generating induced pluripotent stem cells (hiPSCs) with an inactivating mutation in both copies of a GLUT2 (SLC2A2) gene comprising exposing patient-derived peripheral blood mononuclear cells (PBMC) containing an inactivating mutation in both copies of the GLUT2 (SLC2A2) gene to means for inducing pluripotency.
An isolated population of hiPSC, containing an inactivating mutation in both copies of a GLUT2 (SLC2A2) gene.
Dependencies are inferred from the claim text.