GENERATION OF INDUCED PLURIPOTENT STEM CELLS (IPSCs) WITH GLUT2 MUTATION OR FOXA2 DELETION, METHODS OF PREPARING SAME, AND METHODS OF USING SAME

Essam M Abdelalim (Inventor), Ahmed K Elsayed (Inventor), Khalid Hussain (Inventor)

Research output: Patent

Abstract

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.

Original languageEnglish
Patent numberUS2021230557
IPCC12N 15/ 64 A I
Priority date28/01/21
Publication statusPublished - 29 Jul 2021

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