Protemic characterisation of the β-thalassemia erythroid cells from immortalised cell lines
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Blood Cell, Cell Culture
DISEASE(S): Beta Thalassemia
SUBMITTER: 
Debbie Daniels
LAB HEAD: Jan Frayne
PROVIDER: PXD044730 | Pride | 2023-10-24
REPOSITORIES: Pride
Publications
Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.
Daniels Deborah E DE Ferrer-Vicens Ivan I Hawksworth Joseph J Andrienko Tatyana N TN Finnie Elizabeth M EM Bretherton Natalie S NS Ferguson Daniel C J DCJ Oliveira A Sofia F ASF Szeto Jenn-Yeu A JA Wilson Marieangela C MC Brewin John N JN Frayne Jan J
Nature communications 20231006 1
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. We also develop a high throughput compatible fluorometric-based assay for evaluating ...[more]
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