Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa
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Keywords
Induced pluripotent stem cells
Retinitis pigmentosa
TRNT 1
Retinal organoids
Autophagy
Oxidative stress
Abbreviations
RP
Retinitis pigmentosa
TRNT1
tRNA Nucleotidyl Transferase, CCA-Adding 1
iPSC
induced pluripotent stem cells
CSA
congenital sideroblastic anemias
SIFD
B-cell immunodeficiency, periodic fevers and development delay
UPR
unfolded protein response
ER
endoplasmic reticulum
BIP
binding immunoglobulin protein
KLF4
kruppel-like factor 4
OCT4
octamer-binding transcription factor 4
SOX2
sex determining region Y-box 2
c-MYC
V-myc avian myelocytomatosis viral oncogene homolog
NANOG
nanog homeobox
LC3
microtubule-associated protein 1A/1B-light chain 3
LAMP1
lysosomal-associated membrane protein 1
GAPDH
glyceraldehyde 3-phosphate dehydrogenase
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© 2017 Published by Elsevier B.V.