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

doi:10.1016/j.scr.2021.102182

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

Stem Cell Res. 2021 Mar:51:102182. doi: 10.1016/j.scr.2021.102182. Epub 2021 Jan 18.

Authors

Cuilan Hou¹, Lijian Xie², Qingzhu Qiu², Hao Lin³, Wei Liu², Xiaomin Sun², Yongwei Zhang², Meng Xu², Yun Li⁴, Tingting Xiao⁵

Affiliations

¹ 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. Electronic address: [email protected].
² Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200062, China.
³ Department of Cardiology, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China.
⁴ 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. Electronic address: [email protected].
⁵ 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. Electronic address: [email protected].

PMID: 33517121
DOI: 10.1016/j.scr.2021.102182

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple
Cardiomyopathy, Dilated* / genetics
Cell Differentiation
Cellular Reprogramming
China
Craniofacial Abnormalities
Growth Disorders
Heart Septal Defects, Ventricular
Humans
Induced Pluripotent Stem Cells*
Infant
Leukocytes, Mononuclear

Supplementary concepts

Floating-harbor syndrome