Article
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Stem cell research - 1 Jul 2021
Huang Di, Zhang Dan, Chen Shang-Chih, Thandar Aung-Htut May, Lamey Tina M, Thompson Jennifer A, McLaren Terri L, De Roach John N, Fletcher Sue, Wilton Steve D, McLenachan Samuel, Chen Fred K
Abstract excerpt
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Episomes carrying OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed for the reprogramming of...
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