Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy

从患有扩张型心肌病的中国汉族漂浮港综合征婴儿中建立诱导性多能干细胞系

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作者:Cuilan Hou, Lijian Xie, Qingzhu Qiu, Hao Lin, Wei Liu, Xiaomin Sun, Yongwei Zhang, Meng Xu, Yun Li, Tingting Xiao

Abstract

Floating-harbor syndrome, are mainly caused by heterozygous truncating mutations in SRCAP. To our best knowledge, the mutation (c.452_453del) located in the fifth exon of SRCAP, has not been reported yet. Herein, an induced pluripotent stem cell (iPSC) line was generated from the peripheral blood mononuclear cells of an infant with floating-harbor syndrome accompanied with dilated cardiomyopathy through Sendaivirus-mediated reprogramming. These iPSCs have excellent cellular features, including stable amplification, pluripotent markers expression, and spontaneous differentiation into three germ layers, and a normal karyotype. These iPSCs provide a suitable cell model to study the mechanism of Floating-harbor syndrome.

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