Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene


Marfan syndrome (MFS) is a connective-tissue disorder caused mainly by heterozygous mutations in the FBN1 gene that encodes fibrillin-1. In this study, human induced pluripotent stem cell (iPSC) line ZZUSAHi003-A was generated from peripheral blood mononuclear cells (PBMCs) isolated from a female patient with MFS using non-integrative Sendai virus. The iPSC line carried the FBN1 gene mutation, showed the normal karyotype, expressed pluripotency markers and had the capacity to differentiate into three germ layers in vivo. This iPS line, ZZUSAHi003-A, could serve as a useful tool for studying pathogenic mechanisms of MFS. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Qin Z, Sun L, Sun X, Gao X, Su H
Journal Stem cell research
Publication Date 2021 Mar;51:102163
PubMed 33450697
DOI 10.1016/j.scr.2021.102163

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