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

Summary

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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Hou C, Xie L, Qiu Q, Lin H, Liu W, Sun X, Zhang Y, Xu M, Li Y, Xiao T
Journal Stem cell research
Publication Date 2021 Jan 18;51:102182
PubMed 33517121
DOI 10.1016/j.scr.2021.102182

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