Article
Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.
Nature communications - 6 Oct 2023
Daniels Deborah E, Ferrer-Vicens Ivan, Hawksworth Joseph, Andrienko Tatyana N, Finnie Elizabeth M, Bretherton Natalie S, Ferguson Daniel C J, Oliveira A Sofia F, Szeto Jenn-Yeu A, Wilson Marieangela C, Brewin John N, Frayne Jan
Abstract excerpt
β-thalassemia is a prevalent genetic disorder causing severe anemia due to defective erythropoiesis, with few treatment options. Studying the underlying molecular defects is impeded by paucity of suitable patient material. In this study we create human disease cellular model systems for β-thalassemia by gene editing the erythroid line BEL-A, which accurately recapitulate the phenotype of patient erythroid cells....
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