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


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Elsayed AK, Aghadi M, Al-Khawaga S, Hussain K, Abdelalim EM
Journal Stem cell research
Publication Date 2020 Apr;44:101736
PubMed 32146263
DOI 10.1016/j.scr.2020.101736

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