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.