Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene
Autor: | Irina Epshtein, Leah Armon, Boris Fichtman, Amnon Harel, Achia Urbach, Ronen Spiegel, Yam Ben-Haim |
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Rok vydání: | 2021 |
Předmět: |
Gene isoform
Nuclear Envelope QH301-705.5 Induced Pluripotent Stem Cells Nonsense mutation Membrane Proteins Cell Biology General Medicine Biology Molecular biology Loss of function mutation Cytoskeletal Proteins Codon Nonsense Mutation Mutation (genetic algorithm) Molecular mechanism Humans Protein Isoforms Inner membrane Biology (General) Induced pluripotent stem cell Gene Developmental Biology |
Zdroj: | Stem Cell Research, Vol 56, Iss, Pp 102539-(2021) |
ISSN: | 1873-5061 |
Popis: | LAP1 is an inner nuclear membrane protein encoded by TOR1AIP1. A homozygous c.961C > T loss of function mutation in TOR1AIP1 that affects both isoforms of LAP1 was recently described. This mutation leads to the development of a severe multisystemic nuclear envelopathy syndrome. Here we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines derived from skin fibroblasts of two patients carrying the homozygous c.961C > T mutation. These novel lines can be used as a powerful tool to investigate the molecular mechanism by which LAP1 deficiency leads to the development of this severe hereditary disorder. |
Databáze: | OpenAIRE |
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