Elsayed Ahmed K, Aghadi Maryam, Al-Khawaga Sara, Hussain Khalid, Abdelalim Essam M
Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa, Doha, Qatar.
Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Education City, Doha, Qatar.
Stem Cell Res. 2020 Apr;44:101736. doi: 10.1016/j.scr.2020.101736. Epub 2020 Feb 24.
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.
范科尼-比克综合征（FBS）是一种常染色体隐性疾病，由编码葡萄糖转运蛋白2（GLUT2）的SLC2A2基因突变引起。FBS患者会患糖尿病。我们使用非整合型仙台病毒，从一名患有FBS和糖尿病的19岁女性身上生成了一个诱导多能干细胞（iPSC）系QBRIi007-A，该细胞系在SLC2A2基因第5内含子中携带c.613-7 T>G纯合突变。对该iPSC系的多能性、分化潜能、基因组完整性和基因身份进行了表征。这个iPSC系为理解GLUT2在疾病发展中的作用以及发现新的候选药物提供了一个有用的细胞模型。
