Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene

从患有法洛四联症、携带 TBX1 基因突变的患者 YAHKMUi001-A 中生成人类 iPSC 系

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作者:Shen Han, Ya-Yong Zhang, Ming-Yao Meng, Zong-Liu Hou, Ping Meng, Yi-Yi Zhao, Hui Gao, Jian Tang, Zu Liu, Li-Li Yang, Li-Hong Jiang, Ya-Xiong Li

Abstract

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.

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