Wu Suihan, Zhang Zhendong, Wang Lei, Yu Jin
Department of Obstetrics, Qingdao Municipal Hospital, Qingdao 266001, China.
Department of International Clinic, Qingdao Municipal Hospital, Qingdao 266001, China.
Stem Cell Res. 2021 Jul;54:102390. doi: 10.1016/j.scr.2021.102390. Epub 2021 May 16.
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.
FBN1基因的变异与马凡综合征相关，马凡综合征是一种常染色体显性疾病，其临床特征涉及肌肉骨骼、心血管和眼部系统。我们从一名患有马凡综合征且FBN1基因存在杂合性c.6772T>C（p.Cys2258Arg）变异的患者身上生成了人诱导多能干细胞系QDMHi001-A。该细胞系将成为马凡综合征体外疾病建模和药物测试的宝贵资源。
