July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Establishment of induced pluripotent stem cell line for Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy
Author Affiliations & Notes
  • Christopher Seungkyu Lee
    Ophthalmology, Yonsei University College of Medicine, Seoul, Korea (the Republic of)
  • Jin Oh
    Ophthalmology, Yonsei University College of Medicine, Seoul, Korea (the Republic of)
  • Eunyoung Choi
    Ophthalmology, Yonsei University College of Medicine, Seoul, Korea (the Republic of)
  • Footnotes
    Commercial Relationships   Christopher Lee, None; Jin Oh, None; Eunyoung Choi, None
  • Footnotes
    Support  This work (NRF-2016R1D1A1A02937349) was supported by the Korea SGER Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education and Science
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3130. doi:
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    • Get Citation

      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.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To generate induced pluripotent stem cell (iPSC) lines of Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy

Methods : 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.

Results : 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.

Conclusions : 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.

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