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 language | English |
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| Patent number | US2021230557 |
| IPC | C12N 15/ 64 A I |
| Priority date | 28/01/21 |
| Publication status | Published - 29 Jul 2021 |