AI Article Synopsis
- LAMIN A/C, which is produced by the LMNA gene, plays a crucial role in maintaining the structure of cell nuclei and connecting them to the cytoskeleton.
- Defects in the LMNA gene can lead to conditions like congenital muscular dystrophy and Emery-Dreifuss muscular dystrophy, known as laminopathies.
- Researchers have created a homozygous knockout iPSC line (EHTJUi005-A-3) using CRISPR/Cas9 technology, which serves as a valuable model for studying these diseases.
Article Abstract
LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of expression and function of the LMNA gene would lead to the occurrence of congenital muscular dystrophy and Emery-Dreifuss muscular dystrophy which are collectively named as laminopathies. Here, we report a human induced pluripotent stem cell (iPSC) line (EHTJUi005-A-3) generated from a wild iPSC (EHTJUi005-A) with homozygous knockout of the gene LMNA through CRISPR/Cas9. This iPSC line provides a useful research model for studying laminopathies disease.
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| http://dx.doi.org/10.1016/j.scr.2021.102530 | DOI Listing |
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