Article

Efficient GNE myopathy disease modeling with mutation specific phenotypes in human pluripotent stem cells by base editors

2020-11-25

Abstract excerpt

<h4>Summary</h4> Despite the great potential of disease modeling with the isogenic pairs of human pluripotent stem cells (hPSCs), the extremely low efficiency of precise gene editing in hPSCs remains a technical hurdle for this approach. Herein, we took advantage of currently available base editors (BEs) to epitomize the isogenic disease model from hPSCs. Using this method, we established 14 hPSCs that harbor poi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4f871387-7b58-5c44-becf-eacd52fcd491
DOI: 10.1101/2020.11.25.397711

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Efficient GNE myopathy disease modeling with mutation specific phenotypes in human pluripotent stem cells by base editorsDOI 10.1101/2020.11.25.397711Read

Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors.Semantic proximity Read

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathySemantic proximity Read

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.Semantic proximity Read

Precision rewriting of muscle genetics: therapeutic horizons of base and prime editing in skeletal muscle disorders.Semantic proximity Read

Mutation update for GNE gene variants associated with GNE myopathy.Semantic proximity Read

Highly efficient generation of isogenic pluripotent stem cell models using prime editingSemantic proximity Read

Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases.Semantic proximity Read

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.Semantic proximity Read

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathySemantic proximity Read

Gene editing with 'pencil' rather than 'scissors' in human pluripotent stem cells.Semantic proximity Read

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathySemantic proximity Read

A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.Semantic proximity Read