Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene

Keyphrases

• Induced Pluripotent Stem Cells (iPSCs) 100%
• TOR1AIP1 100%
• Nuclear Envelopathies 100%
• Homozygous Nonsense mutation 100%
• Molecular Mechanism 33%
• Gain-of-function mutation 33%
• Skin Fibroblasts 33%
• Stem Cell Lines 33%
• Inner Membrane Protein 33%
• Hereditary Disease 33%
• Multisystemic 33%

Biochemistry, Genetics and Molecular Biology

• Induced Pluripotent Stem Cell 100%
• Nonsense Mutation 100%
• Isoform 50%
• Genetic Disorder 50%
• Inner Nuclear Membrane Protein 50%
• Fibroblast 50%
• Stem Cell Line 50%
• Loss of Function Mutation 50%