Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G N A mutation in RB1 gene
Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G N A mutation in RB1 gene
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从携带 RB1 基因 c.2663G N A 突变的视网膜母细胞瘤患者中生成诱导多能干细胞 (iPSC)
作者：
Zeng Sicong;Lvjun Liu;Qi Ouyang;Yan Zhao;Ge Lin;Liang Hu;Wen Li
皮肤成纤维细胞来自一名诊断为视网膜母细胞瘤（RB）的男性患者，该患者携带RB1基因25外显子c.2663GNA突变。通过将四种重编程因子（OCT4、SOX2、NANOG和LIN28）传递到这些皮肤成纤维细胞中，生成RB-iPS细胞。RB-iPS细胞保留RB1杂合突变，导致RB1 mRNA截断。特性试验证明，该iPSC系具有典型的多能性标记，并能在体外形成三种胚层。
Skin fibroblasts were obtained from a male patient diagnosed with retinoblastoma (RB) carrying a c.2663GNA mutation in the 25 exon of RB1 gene. RB-iPS cells was generated via delivered four reprogramming factors (OCT4, SOX2, NANOG and LIN28) into these skin fibroblasts. The RB-iPS cells retained the RB1 heterozygous mu- tation resulted in a truncated RB1 mRNA. Characteristic tests proved that the iPSC line presented typical markers of pluripotency and had the capability to form the three germ layers in vitro.