Wongkummool Wasinee, Maneepitasut Warun, Tong-Ngam Pirut, Tangprasittipap Amornrat, Munkongdee Thongperm, Boonchuay Chanikarn, Svasti Saovaros, Kitiyanant Narisorn, Paiboonsukwong Kittiphong, Fucharoen Suthat, Tubsuwan Alisa
Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Molecular Medicine Program, Multidisciplinary Unit, Faculty of Science, Mahidol University, 10400, Thailand.
Stem Cell Res. 2017 Apr;20:80-83. doi: 10.1016/j.scr.2017.02.012. Epub 2017 Mar 7.
The thalassemias are a group of genetic disorders characterized by a deficiency in the synthesis of globin chains. In this study the MUi009-A human induced pluripotent stem cell line was successfully generated from peripheral blood CD34+ haematopoietic progenitors of a 32year old male who had coinherited a homozygous β°-thalassemia mutation at codon 41/42 (-TCTT) and a heterozygous α-thalassemia 4.2 deletion. The MUi009-A cell line exhibited embryonic stem cell characteristics with consistent pluripotency marker expression and the capability of differentiating into the three germ layers. The cell line may provide a tool for drug testing and gene therapy studies.
地中海贫血是一组以珠蛋白链合成缺陷为特征的遗传性疾病。在本研究中，成功地从一名32岁男性的外周血CD34+造血祖细胞中生成了MUi009-A人诱导多能干细胞系，该男性同时遗传了密码子41/42处的纯合β°-地中海贫血突变（-TCTT）和杂合α-地中海贫血4.2缺失。MUi009-A细胞系表现出胚胎干细胞特征，具有一致的多能性标志物表达以及分化为三个胚层的能力。该细胞系可为药物测试和基因治疗研究提供一种工具。
