Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.
Department of Prenatal Diagnosis (Screening) Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou 310008, China.
Stem Cell Res. 2021 Aug;55:102459. doi: 10.1016/j.scr.2021.102459. Epub 2021 Jul 14.
Mutations in FBN1 (gene encodes the matrix protein fibrillin 1), are usually associated with Marfan syndrome (MS). This syndrome contains ocular, skeletal, cardiovascular, pulmonary, cutaneous and neurological abnormalities. Here, we introduced an induced pluripotent stem cell (iPSC) line from a patient who suffered from severe cardiovascular disease and carried a c.6734G > A mutation in FBN1. Dermal fibroblasts of the patient were reprogrammed with non-integrating Sendai virus (SeV). Generated iPSC line exhibited normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and was capable of differentiating into three germ layers. This iPSC line will be a valuable tool for studying MS.
FBN1 基因突变（该基因编码细胞外基质蛋白原纤维蛋白 1）通常与马凡综合征（Marfan syndrome，MS）相关。该综合征包含眼、骨骼、心血管、肺、皮肤和神经系统异常。在此，我们介绍了一位患有严重心血管疾病且 FBN1 基因 c.6734G＞A 突变的患者来源的诱导多能干细胞（induced pluripotent stem cell，iPSC）系。患者的真皮成纤维细胞通过非整合性仙台病毒（Sendai virus，SeV）进行重编程。生成的 iPSC 系具有正常核型，表现出胚胎干细胞样形态，表达多能性标记物，并且能够分化为三个胚层。该 iPSC 系将成为研究 MS 的有价值工具。
