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

<p>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.</p><h2>Other Information</h2> <p> Published in: Stem Cell Research<br> License: <a href="http://creativecommons.org/licenses/by-nc-nd/4.0/" target="_blank">http://creativecommons.org/licenses/by-nc-nd/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.scr.2020.101736" target="_blank">https://dx.doi.org/10.1016/j.scr.2020.101736</a></p>