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

从携带 FBN1 杂合 c.6772 T > C 变异的马凡氏综合征患者体内生成人类 iPSC 系 QDMHi001-A

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作者:Suihan Wu, Zhendong Zhang, Lei Wang, Jin Yu

Abstract

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 syndrome.

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