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从一名Senior-Loken综合征患者的外周血单个核细胞生成人类诱导多能干细胞。

Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient.

作者信息

Park Hyeyeon, Han Jinu, Lee Youngsun, Kwak Sungwook, Koo Soo Kyung

机构信息

Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea.

Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.

出版信息

Stem Cell Res. 2019 Dec;41:101648. doi: 10.1016/j.scr.2019.101648. Epub 2019 Nov 1.

Abstract

Senior-Loken syndrome (SLS) is a rare disorder primarily associated with kidney and retinal dysfunction. We generated a human induced pluripotency stem cell (hiPSC) line, designated DKHi005-A, from peripheral blood mononuclear cells of a patient with SLS using a Sendai virus reprogramming method. We confirmed that DKHi005-A cells harbor the same mutation as the patient and show a normal karyotype. DKHi005-A also has pluripotency and the capacity for differentiation into the three germ layers. This cell line is registered and available at the National Stem Cell Bank, Korea National Institute of Health.

摘要

Senior-Loken综合征(SLS)是一种罕见的疾病,主要与肾脏和视网膜功能障碍有关。我们使用仙台病毒重编程方法,从一名SLS患者的外周血单个核细胞中生成了一个人诱导多能干细胞(hiPSC)系,命名为DKHi005-A。我们证实DKHi005-A细胞携带与患者相同的突变,并且核型正常。DKHi005-A还具有多能性以及分化为三个胚层的能力。该细胞系已在韩国国立卫生研究院国家干细胞库注册并可供使用。

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