从一名患有与CLCN7相关的婴儿型恶性常染色体隐性骨硬化症的患者身上生成人诱导多能干细胞系（BIHi002-A）。
Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.
作者信息
Hennig Anna Floriane, Rössler Uta, Boiti Franziska, von der Hagen Maja, Gossen Manfred, Kornak Uwe, Stachelscheid Harald
机构信息
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany.
出版信息
Stem Cell Res. 2019 Mar;35:101367. doi: 10.1016/j.scr.2018.101367. Epub 2018 Dec 26.
Autosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c.1208G>A using Sendai viral vectors. The pluripotent identity of the BIHi002-A line was confirmed by their expression of typical markers for undifferentiated hiPSCs, their capacity to differentiate into cells of the three germ layers and by PluriTest analysis. The BIHi002-A line provides a tool for disease modelling and therapy development.
常染色体隐性遗传性骨硬化症（ARO）是一种遗传性骨病，可由CLCN7基因突变引起，该突变会阻止破骨细胞介导的骨吸收。我们使用仙台病毒载体，从一名携带CLCN7突变c.875G>A和c.1208G>A的ARO患者的外周血单个核细胞中生成了人诱导多能干细胞（hiPSC）系BIHi002-A。通过未分化hiPSC的典型标志物表达、分化为三个胚层细胞的能力以及PluriTest分析，证实了BIHi002-A系的多能性身份。BIHi002-A系为疾病建模和治疗开发提供了一种工具。
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