Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture.
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ABSTRACT:
SUBMITTER: Su PY
PROVIDER: S-EPMC9801682 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
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Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture.
Su Pei-Yin PY Lee Winston W Zernant Jana J Tsang Stephen H SH Nagasaki Takayuki T Corneo Barbara B Allikmets Rando R
Stem cell research 20221114
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 approac ...[more]
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