Human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different iPSC lines were generated and characterized from primary dermal fibroblasts of the affected subject and two from the unaffected brother. All iPSC lines expressed the pluripotency markers, were able to differentiate into the three germ layers and presented normal karyotypes. This cellular model will provide a powerful tool to study this retinal dystrophy and better understand the role of ITM2B.

人诱导的多能干细胞（iPSC）系从患有常染色体显性视网膜营养不良的患者的成纤维细胞产生，该患者在ITM2B中携带c.782A> C，p.Glu261Ala突变，并来自一个未受影响的兄弟。产生了三种不同的iPSC细胞系，并从患病对象的原代皮肤成纤维细胞中鉴定出特征，另外两种则来自未受影响的兄弟。所有iPSC品系均表达多能性标记，能够分化为三个胚层并呈正常核型。这种细胞模型将提供强大的工具来研究这种视网膜营养不良并更好地了解ITM2B的作用。