Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture


Pathogenic variation in the ABCA4 gene is the underlying cause of Stargardt disease, the most common inherited retinal degeneration. We established an induced pluripotent stem cell line for retinal organoid research from a patient with mild disease features who is compound heterozygous for the frequent c.5882G>A (p.Gly1961Glu) missense variant and a c.4947delC (p.Glu1650Argfs*12) frameshift variant. Peripheral blood mononuclear cells were reprogrammed using a non-integrating Sendai virus approach. G-banded karyotyping was normal (46, XY) and mycoplasma testing was negative. Immunohistochemistry and RT-qPCR were performed to verify the expression of pluripotency and stemness markers (LIN28, NANOG, OCT4 and SOX2) and trilineage differentiation. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Su PY, Lee W, Zernant J, Tsang SH, Nagasaki T, Corneo B, Allikmets R
Journal Stem cell research
Publication Date 2022 Nov 14;65:102973
PubMed 36455383
DOI 10.1016/j.scr.2022.102973

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