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.

Stem Cell Research
Ahmed K ElsayedEssam M Abdelalim

Abstract

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.

Citations

Nov 27, 2020·Cellular and Molecular Life Sciences : CMLS·Essam M Abdelalim
Apr 6, 2021·World Journal of Stem Cells·Ahmed K ElsayedEssam M Abdelalim
Jun 4, 2021·Frontiers in Endocrinology·Sandra HellerAlexander Kleger

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