从一名患有 FBN1 基因 c.2777G > A（p.Cys926Tyr）杂合子突变的马凡氏综合征患者身上，培育出无整合诱导多能干细胞 FJMAi001-A。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-10-21 DOI:10.1016/j.scr.2024.103591

Ronghua Liu , Guoxing Weng , Fuzhen Zheng , Jinyan Chen , Kun Wang , Junyong Han , Jie Huang , Licheng Yan , Jingjun Jin

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引用次数: 0

摘要

马凡综合征（MFS）是一种遗传性显性纤维结缔组织疾病，由15号染色体上编码纤连蛋白-1的基因突变引起。在此，我们报告了一种诱导多能干细胞（iPSC）系，该细胞系是从一名携带 FBN1 基因 c.2777G > A(p.Cys926Tyr)杂合突变的 MFS 患者身上用外显子法产生的。这种MFS特异性iPSC细胞系可用作研究马凡综合征发病机制的细胞疾病模型。

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Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1

Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.