人诱导多能干细胞源自一位 SERPINC1 c.236G>A（p.R79H）突变的患者。
Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H).
机构信息
Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China.
Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China.
出版信息
Stem Cell Res. 2023 Sep;71:103150. doi: 10.1016/j.scr.2023.103150. Epub 2023 Jun 22.
Mutation of SERPINC1 is related to the incidence of Inherited antithrombin (AT) deficiency. In this study, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a patient with a mutation of SERPINC1 c.236G>A (p.R79H). The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Besides, it has a normal female karyotype and could differentiate into all three germ layers in vitro.
SERPINC1 基因突变与遗传性抗凝血酶（AT）缺乏症的发病有关。本研究从一名 SERPINC1 c.236G>A（p.R79H）基因突变患者的外周血单核细胞中诱导生成了人诱导多能干细胞（iPSC）系。生成的 iPSC 表达多能细胞标志物，无支原体污染。此外，它具有正常的女性核型，并能在体外分化为三个胚层。
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