Abstract：
Hemoglobin Constant Spring (HbCS) is unstable hemoglobin resulting from a nucleotide substitution at the termination codon of the HBA2 gene (c.427 T > C). The homozygous state for HbCS is non-transfusion dependent in adults. Nevertheless, severe anemia is often observed in fetuses. Here, human induced pluripotent stem cell line MUi034-A was generated from peripheral blood CD34+ hematopoietic stem/progenitor cells (HSPCs) derived from a 14-year-old female with homozygous HbCS who had a history of severe anemia and hydrops during fetal period. The MUi034-A cell line represented embryonic-like characteristics as they expressed specific pluripotency markers, differentiated into the three germ layers, and retained normal karyotyping.
摘要：
血红蛋白恒定弹簧（HbCS）是不稳定的血红蛋白，由HBA2基因终止密码子处的核苷酸取代引起（c.427T>C）。HbCS的纯合状态在成人中是非输血依赖性的。然而，在胎儿中经常观察到严重的贫血。这里,人诱导多能干细胞系MUi034-A由一名14岁女性外周血CD34+造血干/祖细胞(HSPCs)产生,该女性患有纯合型HbCS,在胎儿期有严重贫血和水肿史.MUi034-A细胞系表现出胚胎样特征，因为它们表达了特定的多能性标记，分化为三个胚层，并保持正常的核型分析。
