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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 ( IF 0.8 ) Pub Date : 2020-02-24 , DOI: 10.1016/j.scr.2020.101736
Ahmed K Elsayed 1 , Maryam Aghadi 2 , Sara Al-Khawaga 3 , Khalid Hussain 4 , Essam M Abdelalim 2
Affiliation  

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.



中文翻译:

从携带 SLC2A2 基因纯合内含子突变 (c.613-7T>G) 的患者中获得人类诱导多能干细胞系 (QBRIi007-A)。

Fanconi Bickel 综合征 (FBS) 是一种常染色体隐性遗传病,由编码 GLUT2的SLC2A2基因突变引起。FBS 患者发展为糖尿病。使用非整合仙台病毒,我们生成了诱导多能干细胞 (iPSC) 系 QBRIi007-A,该系携带来自 19 岁女性的SLC2A2基因的内含子 5 中的 c.613-7 T > G纯合突变与 FBS 和糖尿病。iPSC 系的特征在于多能性、分化潜能、基因组完整性和遗传同一性。该 iPSC 系提供了一个有用的细胞模型来了解 GLUT2 在疾病发展中的作用并发现新的候选药物。

更新日期:2020-02-24
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