CDA-I Model Generation

Generation of a disease model for CDA-I: Congenital Dyserythropoietic Anemia Type I results from a mutation in CDAN1 which results in anemia. There are several mutations found in patients. The aim of this project is to create cell lines with patient mutations to mimic human disease. This project will lead into follow up analysis of mutant cell lines.

Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation - PubMedThe generation of a functional erythrocyte from a committed progenitor requires significant changes in gene expression during hemoglobin accumulation, rapid cell division, and nuclear condensation. Congenital dyserythropoietic anemia type I (CDA-I) is an autosomal recessive disease that presents wit …

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