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

Zhiping Qin; Liqiang Sun; Xue Sun; Xinxuan Gao; Hang Su

doi:10.1016/j.scr.2021.102163

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

Stem Cell Res. 2021 Mar:51:102163. doi: 10.1016/j.scr.2021.102163. Epub 2021 Jan 8.

Authors

Zhiping Qin¹, Liqiang Sun², Xue Sun³, Xinxuan Gao³, Hang Su³

Affiliations

¹ Department of Doppler Ultrasonic, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Electronic address: prettyeve@126.com.
² Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
³ Department of Doppler Ultrasonic, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

PMID: 33450697
DOI: 10.1016/j.scr.2021.102163

Abstract

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.

Publication types

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

MeSH terms

Female
Fibrillin-1 / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Marfan Syndrome* / genetics
Mutation

Substances

FBN1 protein, human
Fibrillin-1