从法布雷病患者的皮肤成纤维细胞中生成和鉴定诱导多能干细胞系（CTGUi001-A）。
Generation and characterization of iPS cell line (CTGUi001-A) from skin fibroblasts of a patient with Fabry disease.
机构信息
The People's Hospital of China Three Gorges University, The First People's Hospital of Yichang, Yichang 443000, Hubei, China.
Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China.
出版信息
Stem Cell Res. 2023 Jun;69:103063. doi: 10.1016/j.scr.2023.103063. Epub 2023 Mar 7.
We have generated an iPSCs line (CTGUi001-A) from dermal fibroblasts of a 16-year-old male Fabry disease patient with a novel GLA gene mutation (c.156C > A) using Sendai virus encoding the four Yamanaka factors OCT4, SOX2, KLF4, and c-MYC. The CTGUi001-A iPSC line displayed typical embryonic stem cell-like morphology, carried the GLA gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and was capable of forming teratomas containing three germ layers.
我们已使用携带四个 Yamanaka 转录因子（OCT4、SOX2、KLF4 和 c-MYC）的 Sendai 病毒，从一位患有新型 GLA 基因突变（c.156C > A）的 16 岁男性法布里病患者的皮肤成纤维细胞中生成了 iPSCs 系（CTGUi001-A）。CTGUi001-A iPSC 系呈现典型的胚胎干细胞样形态，携带 GLA 基因突变，表达几种多能干细胞标志物，保持正常核型（46，XY），并能够形成包含三个胚层的畸胎瘤。
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