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Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.

作者信息

Hsu Chih-Chien, Lu Huai-En, Chuang Jen-Hua, Ko Yu-Ling, Tsai Yi-Ching, Tai Hsiao-Yun, Yarmishyn Aliaksandr A, Hwang De-Kuang, Wang Mong-Lien, Yang Yi-Ping, Chen Shih-Jen, Peng Chi-Hsien, Chiou Shih-Hwa, Lin Tai-Chi

机构信息

Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.

出版信息

Stem Cell Res. 2018 May;29:134-138. doi: 10.1016/j.scr.2018.03.019. Epub 2018 Apr 3.

DOI:10.1016/j.scr.2018.03.019
PMID:29660606
Abstract

Best disease (BD), also termed Best vitelliform macular dystrophy (BVMD), is a juvenile-onset form of macular degeneration and central visual loss. In this report, we generated an induced pluripotent stem cell (iPSC) line, TVGH-iPSC-012-04, from the peripheral blood mononuclear cells of a female patient with BD by using the Sendai virus delivery system. The resulting iPSCs retained the disease-causing DNA mutation, expressed pluripotent markers and could differentiate into three germ layers. We believe that BD patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease.

摘要

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2
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Human iPSC banking: barriers and opportunities.人诱导多能干细胞库的建立:障碍与机遇。
J Biomed Sci. 2019 Oct 28;26(1):87. doi: 10.1186/s12929-019-0578-x.