Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal de...
2024-09-11
Abstract
We
report the human induced pluripotent stem cell line (iPSC) CSUASOi002-A,
generated from urine-derived cells (UCs) from a 51-year-old female patient
carrying compound heterozygous mutations (c.62_63delTinsGA and c.C892T) in the
carbohydrate sulfotransferase 6 gene (CHST6). This patient was from a Chinese
family of three siblings with macular corneal dystrophy (MCD). Patient UCs were
reprogrammed by electroporation using the episomal plasmids (OCT4, SOX2, KLF4,
l-MYC, LIN28 and shP53). The human MCD-UiPS cell line CSUASOi002-A retained the
disease-associated genotype, while expressed pluripotent stem cell markers and
could be differentiated into cells of all three germ layers.