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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

journal contribution
submitted on 2023-10-29, 05:55 and posted on 2023-10-29, 12:04 authored by Ahmed K. Elsayed, Sara Al-Khawaga, Khalid Hussain, Essam M. Abdelalim

Recessive mutations in the glucose transporter gene SLC2A2 (GLUT2) lead to permanent neonatal diabetes (PNDM) and Fanconi Bickel Syndrome (FBS). Here, we generated an induced pluripotent stem cell (iPSC) line, QBRIi012-A, from a 24-month-old boy with FBS and PNDM due to homozygous nonsense mutation in the SLC2A2 gene (c.901C > T). The QBRIi012-A was fully characterized using different approaches. The cell line showed normal karyotype and was able to differentiate into the three germ layers in vitro. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes associated with SLC2A2 defects.

Other Information

Published in: Stem Cell Research
See article on publisher's website:

Additional institutions affiliated with: Diabetes Research Center - QBRI


Open Access funding provided by the Qatar National Library



  • English



Publication Year

  • 2021

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License

Institution affiliated with

  • Hamad Bin Khalifa University
  • Qatar Biomedical Research Institute - HBKU
  • College of Health and Life Sciences - HBKU
  • Sidra Medicine