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 frequ...

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Bibliographic Details
Published in:Stem cell research 2022-12, Vol.65, p.102973-102973, Article 102973
Main Authors: Su, Pei-Yin, Lee, Winston, Zernant, Jana, Tsang, Stephen H., Nagasaki, Takayuki, Corneo, Barbara, Allikmets, Rando
Format: Article
Language:English
Subjects:
ATP-Binding Cassette Transporters
Humans
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Stargardt Disease
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102973