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

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

Stem Cell Research (May 2018)

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

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

Affiliations

Chih-Chien Hsu: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan
Huai-En Lu: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan
Jen-Hua Chuang: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Pharmacology, National Yang-Ming University, Taipei, Taiwan
Yu-Ling Ko: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan
Yi-Ching Tsai: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan
Hsiao-Yun Tai: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan
Aliaksandr A. Yarmishyn: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan
De-Kuang Hwang: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan
Mong-Lien Wang: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan
Yi-Ping Yang: School of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Neurosurgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan
Shih-Jen Chen: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan
Chi-Hsien Peng: Department of Ophthalmology, Shin Kong Wu Ho-Su Memorial Hospital & Fu-Jen Catholic University, Taipei, Taiwan
Shih-Hwa Chiou: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Institute of Pharmacology, National Yang-Ming University, Taipei, Taiwan; Corresponding authors at: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.
Tai-Chi Lin: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding authors at: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.

Journal volume & issue: Vol. 29
pp. 134 – 138

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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