Stem Cell Research ( IF 0.8 ) Pub Date : 2019-12-12 , DOI: 10.1016/j.scr.2019.101687 Shen Han 1 , Ya-Yong Zhang 1 , Ming-Yao Meng 2 , Zong-Liu Hou 2 , Ping Meng 1 , Yi-Yi Zhao 2 , Hui Gao 2 , Jian Tang 1 , Zu Liu 1 , Li-Li Yang 2 , Li-Hong Jiang 3 , Ya-Xiong Li 1
The human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G > A). The skin fibroblasts were obtained from a 4-year-old boy, and were infected with Sendai virus expressing the Yamanaka factors. The YAHKMUi001-A iPSC line expresses pluripotent stem cell markers, displays a normal karyotype, and has the capacity to differentiate into 3 germ layers. This cell line model can be a good tool to study the pathological mechanism of the TBX1 gene mutations associated with TOF.
中文翻译:
从法洛四联症(YAHKMUi001-A)携带TBX1基因突变的患者中产生人iPSC品系。
人诱导多能干细胞(iPSC)品系YAHKMUi001-A源自法洛四联症(TOF)患者的真皮成纤维细胞,其中TBX1基因发生突变(c.928G> A)。皮肤成纤维细胞取自一个四岁男孩,并被表达山中因子的仙台病毒感染。YAHKMUi001-A iPSC品系表达多能干细胞标记,显示正常的核型,并具有分化为3个胚层的能力。该细胞系模型可以作为研究与TOF相关的TBX1基因突变的病理机制的好工具。