This study shows generation of iPSCs from peripheral blood mononuclear cells (PBMNCs) of a male patient having homozygous CD 8/9 (+G) beta thalassemia (major) mutation. Cells were nucleofected with episomal vectors containing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (dominant negative p53 mutation). Cell line exhibited presence of pluripotency markers by immunofluorescence, flow-cytometry and PCR. The plasmids were lost from cells by subsequent passages, observed by PCR. Karyotype analysis demonstrated a stable genome. The cells had capability to differentiate into three-germ lineages in vitro. This iPSC line can be used as a tool for drug design and gene therapy studies.

这项研究表明，患有纯合CD 8/9（+ G）β地中海贫血（严重）突变的男性患者的外周血单核细胞（PBMNC）生成了iPSC。用含有Oct4，Sox2，L -Myc，Lin28，Klf4和p53DD（显性负p53突变）的附加型载体对细胞进行核转染。通过免疫荧光，流式细胞术和PCR，细胞系表现出多能性标记物的存在。通过PCR观察，随后的传代使质粒从细胞中丢失。核型分析表明基因组稳定。这些细胞具有体外分化为三胚系的能力。该iPSC系列可以用作药物设计和基因疗法研究的工具。