源自一名携带FBN1基因c.1858C>T（p.Pro620Ser）突变患者的人诱导多能干细胞。
Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser).
作者信息
Lin Aiqi, Kang Xiaocui, Xu Yi, Feng Xiaochao, Zhang Shufan, Zhao Hongchen, Wu Danhong, Han Xiang
机构信息
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China.
出版信息
Stem Cell Res. 2022 May;61:102759. doi: 10.1016/j.scr.2022.102759. Epub 2022 Mar 23.
Mutation of FBN1 has certain relation with the incidence of cranial cervical artery dissection. Our study reprogrammed human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMC) of a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser). The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Besides, it has normal karyotype and could differentiate into mesoderm, endoderm and neuronal layers. We also identified it has the same specific mutation with our patient.
FBN1突变与颅颈动脉夹层的发生率有一定关系。我们的研究从一名携带FBN1 c.1858C>T（p.Pro620Ser）突变的患者的外周血单个核细胞（PBMC）中重编程得到了人诱导多能干细胞（iPSC）。所产生的iPSC表达多能细胞标志物，且无支原体污染。此外，它具有正常的核型，能够分化为中胚层、内胚层和神经层。我们还鉴定出它与我们的患者具有相同的特定突变。
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