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

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

Stem Cell Research (Mar 2021)

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

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

Affiliations

Cuilan Hou: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200062, China
Lijian Xie: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Qingzhu Qiu: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Hao Lin: Department of Cardiology, Shanghai Ninth People’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Wei Liu: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Xiaomin Sun: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Yongwei Zhang: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Meng Xu: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China
Yun Li: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200062, China; Corresponding authors at: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China.
Tingting Xiao: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200062, China; Corresponding authors at: Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai 200062, China.

Journal volume & issue: Vol. 51
p. 102182

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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