Article
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Stem cell research - 1 Jul 2021
Huang Di, Zhang Dan, Chen Shang-Chih, Aung-Htut May Thandar, Lamey Tina M, Thompson Jennifer A, McLaren Terri L, De Roach John N, Fletcher Sue, Wilton Steve D, Chen Fred K, McLenachan Samuel
Abstract excerpt
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546--10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and...
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