Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene.
Stem Cell Res
; 60: 102720, 2022 04.
Article
em En
| MEDLINE
| ID: mdl-35231796
ABSTRACT
Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was generated. This iPSC line exhibited normal morphology and karyotype, and could differentiate into three germ layers in vivo and in vitro. Thus, the established iPSC line provided a precise platform for elucidating the molecular pathogenesis and personalized drug screening of MFS.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Células-Tronco Pluripotentes Induzidas
/
Síndrome de Marfan
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article