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
oleh: Zhiping Qin, Liqiang Sun, Xue Sun, Xinxuan Gao, Hang Su
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2021-03-01 |
Deskripsi
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.