Manara - Qatar Research Repository
Browse
1/1
2 files

Derivation of a human induced pluripotent stem cell line (QBRIi007-A) from a patient carrying a homozygous intronic mutation (c.613-7T>G) in the SLC2A2 gene

journal contribution
submitted on 2024-06-30, 11:13 and posted on 2024-06-30, 11:13 authored by Ahmed K. Elsayed, Maryam Aghadi, Sara Al-Khawaga, Khalid Hussain, Essam M. Abdelalim

Fanconi Bickel Syndrome (FBS) is an autosomal recessive disease resulting from mutations in the SLC2A2 gene, encoding the GLUT2. FBS patients develop diabetes mellitus. Using non-integrating Sendai virus, we generated an induced pluripotent stem cell (iPSC) line, QBRIi007-A, carrying the c.613-7 T>G homozygous mutation in intron 5 of the SLC2A2 gene from a 19-year-old female with FBS and diabetes. The iPSC line was characterized for pluripotency, differentiation potential, genomic integrity, and genetic identity. This iPSC line provides a useful cell model to understand the role of GLUT2 in the disease development and to discover new drug candidates.

Other Information

Published in: Stem Cell Research
License: http://creativecommons.org/licenses/by-nc-nd/4.0/
See article on publisher's website: https://dx.doi.org/10.1016/j.scr.2020.101736

History

Language

  • English

Publisher

Elsevier

Publication Year

  • 2020

License statement

This Item is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Institution affiliated with

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