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
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2021 | 起止号: | 2021 Jul:54:102390. |
| doi: | 10.1016/j.scr.2021.102390 | 种属: | Human |
| 研究方向: | 信号转导 | |
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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