从一名患有马凡综合征且在原纤蛋白-1（FBN1）基因中携带杂合c.6772 T＞C变异的患者身上生成人类诱导多能干细胞系QDMHi001-A。
Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1.
作者信息
Wu Suihan, Zhang Zhendong, Wang Lei, Yu Jin
机构信息
Department of Obstetrics, Qingdao Municipal Hospital, Qingdao 266001, China.
Department of International Clinic, Qingdao Municipal Hospital, Qingdao 266001, China.
出版信息
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。
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