AI Article Synopsis
- MEN1 is an autosomal dominant disorder linked to mutations in the MEN1 tumor suppressor gene, leading to various endocrine/neuroendocrine tumors.
- Researchers created an isogenic control line and a homozygous double mutant line using CRISPR/Cas technology from induced pluripotent stem cells (iPSCs) of a patient with a specific MEN1 mutation (c.1273C>T).
- These newly developed cell lines aim to help understand the underlying mechanisms of MEN1 and assist in identifying possible therapeutic targets for treatment.
Article Abstract
MEN1, an autosomal dominant disorder caused by mutations in the tumor suppressor gene MEN1, manifests with co-occurrence of multiple endocrine/neuroendocrine neoplasms. An iPSC line derived from an index patient carrying the mutation c.1273C>T (p.Arg465*) was edited using a single multiplex CRISPR/Cas approach to create an isogenic control non-mutated line and a homozygous double mutant line. These cell lines will be useful for elucidating subcellular MEN1 pathophysiology and for screening to identify potential MEN1 therapeutic targets.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10882434 | PMC |
| http://dx.doi.org/10.1016/j.scr.2023.103124 | DOI Listing |
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