ISSN 1662-4009 (online)

ey0019.2-13 | Neonatal diabetes mellitus | ESPEYB19

2.13. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene

AK Elsayed , S Al-Khawaga , K Hussain , EM Abdelalim

Stem Cell Res. 2021 Jul;54:102433. doi: 10.1016/j.scr.2021.102433. PMID: 34171785.Brief Summary: This study generated induced pluripotent stem cells (iPSCs) from a patient with permanent neonatal diabetes mellitus (PNDM) due to Fanconi-Bickel syndrome. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes mellitus and for the potential of dev...