Transcriptional alterations in Type II Rothmund-Thompson Syndrome. Transcriptional alterations in Type II Rothmund-Thompson Syndrome

We generated induced pluripotent stem cell lines (iPSCs) from paired RTS patient/ parental control fibroblasts. These iPSCs were differentiated to mesenchymal stem cells (MSCs), and then to osteoblasts. We next compared the transcriptional profiles of MSCs, pre-osteoblasts, and osteoblasts. Overall design: Comparison of Type II RTS (RECQL4 mut/mut) iPCS derived mesenchymal stem celks, early osteoblasts, and late osteoblasts to Family controls (RECQL4wt/mut).

本研究从配对的RTS患者及其亲本对照成纤维细胞中诱导生成了诱导多能干细胞系（induced pluripotent stem cell lines, iPSCs）。将上述iPSCs定向分化为间充质干细胞（mesenchymal stem cells, MSCs），随后进一步分化为成骨细胞。随后我们对间充质干细胞、前成骨细胞以及成骨细胞的转录组图谱开展了比较分析。整体实验设计：将Ⅱ型RTS（RECQL4 mut/mut）诱导多能干细胞来源的间充质干细胞、早期成骨细胞及晚期成骨细胞，与家族对照（RECQL4wt/mut）样本进行转录组特征对比。