Purchase this article with an account.
Christopher Seungkyu Lee, Jin Oh, Eunyoung Choi; Establishment of induced pluripotent stem cell line for Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3130. doi: https://doi.org/.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To generate induced pluripotent stem cell (iPSC) lines of Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically characterized Best vitelliform macular dystrophy patient and an autosomal recessive bestrophinopathy patient. The PBMCs were reprogrammed with Yamanaka transcriptional factors (Oct3/4, Sox2, Klf4, c-Myc) using episomal plasmids. The pluripotency of , iPSCs were verified by immunocytochemistry, RT-qPCR, and by ScoreCard assay that use gene expression signatures to quantify differentiation efficiency.
PBMCs from a 41-year-old woman with Best vitelliform maculary dystrophy (BEST1 mutation, p.Gln96Arg) and a 57-year-old woman with autosomal recessive bestrophinopathy (BEST1 mutation, p.Leu40Pro, p.Ala195Va) were collected and reprogrammed into iPSC. Pluripotency of were verified and normal karyotypes were observed in iPSC lines.
Our model might offer a good platform to study the pathophysiology, perform drug testing, and develop gene and cell therapies for BEST1-related retinal diseases.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
This PDF is available to Subscribers Only