利用携带COL1A1基因c.3162delT突变的I型成骨不全患者生成患者特异性诱导多能干细胞系KSCBi006-A。
Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation.
作者信息
Kim Bo-Young, Ko Jung Min, Park Mi-Hyun, Koo Soo Kyung
机构信息
Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea.
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
出版信息
Stem Cell Res. 2019 Dec;41:101622. doi: 10.1016/j.scr.2019.101622. Epub 2019 Oct 25.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones. OI type I is the most common and usually the mildest form. We generated human induced pluripotent stem cells (hiPSCs), KSCBi006-A, from the peripheral blood mononuclear cells of a patient with OI type I using the Sendai virus delivery method. The generated hiPSCs retained the disease-causing DNA mutation (COL1A1, c.3162delT) and showed a normal karyotype. KSCBi006-A also has pluripotency and the capacity for differentiation into the three germ layers. These patient-specific iPSCs provide a valuable cellular modeling platform for OI and a resource for drug screening.
成骨不全症（OI）是一种以骨骼脆弱为特征的遗传性疾病。I型成骨不全症是最常见且通常是最轻微的形式。我们使用仙台病毒递送方法，从一名I型成骨不全症患者的外周血单个核细胞中生成了人诱导多能干细胞（hiPSC）KSCBi006-A。所生成的hiPSC保留了致病DNA突变（COL1A1，c.3162delT），并显示出正常的核型。KSCBi006-A也具有多能性以及分化为三个胚层的能力。这些患者特异性诱导多能干细胞为成骨不全症提供了一个有价值的细胞模型平台以及药物筛选资源。
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