Article
Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4.
Stem cell research - 1 Oct 2020
Jennings Luke, Zhang Dan, Chen Shang-Chih, Moon Sang Yoon, Lamey Tina, Thompson Jennifer A, McLaren Terri, De Roach John N, Chen Fred K, McLenachan Samuel
Abstract excerpt
Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28,...
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