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Gene editing as a tool for developing cell based models of a lysosomal storage disorder: preliminary results
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Orientador(es)
Resumo(s)
In this work, we aimed to establish a Fabry Disease (FD, OMIM: #301500) disease model using the CRISPR/Cas 9 system by knocking out a HDFa iPSC line. We also aimed to correct a nonsense mutation (p. W 287 X) in the iPSCs derived from a patient with FD.
The cell lines used were generated in our laboratory, and the FD iPSC line is registered in the Human Pluripotent Stem Cell Registry with identification "INSAi 002-A".
To fully evaluate the molecular and cellular physiological changes, further studies are still required.
The development of innovative cell models, particularly for rare diseases like Lysosomal Storage Disorders, is beneficial for studying the pathophysiology of the disease.
Descrição
Poster Session II: Molecular Biotechnology, Omics & Therapeutic Innovation, P13.
Palavras-chave
Gene Editing Doenças Genéticas Cell Models iPSCs Fabry Disease CRISPR/Cas9 Genética Humana