Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation
Summary
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. Copyright © 2018. Published by Elsevier B.V.
| Authors | Hsu CC, Lu HE, Chuang JH, Ko YL, Tsai YC, Tai HY, Yarmishyn AA, Hwang DK, Wang ML, Yang YP, Chen SJ, Peng CH, Chiou SH, Lin TC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 May;29:134-138 |
| PubMed | 29660606 |
| DOI | 10.1016/j.scr.2018.03.019 |