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Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1.

Stem cell research - 1 Jul 2021

Wu Suihan, Zhang Zhendong, Wang Lei, Yu Jin

Abstract excerpt

Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome and a heterozygous c.6772 T > C (p.Cys2258Arg) variant in FBN1. This line will be a valuable resource for in vitro disease modeling and drug testing for Marfan...

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Fibrillin-1
Heterozygote
Induced Pluripotent Stem Cells
Marfan Syndrome
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34087733
DOI: 10.1016/j.scr.2021.102390

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