AI Article Synopsis
- Specific mutations in the TTR gene lead to hereditary ATTR amyloidosis, impacting the heart.
- Researchers created two human induced pluripotent stem cell (iPSC) lines from patients with a TTR mutation (p.Val30Met), demonstrating high pluripotency.
- These patient-derived iPSCs are valuable for studying amyloidosis mechanisms in different cell types and tissues.
Article Abstract
Specific mutations in the TTR gene are responsible for the development of variant (hereditary) ATTR amyloidosis. Here, we generated two human induced pluripotent stem cell (iPSC) lines from patients diagnosed with Transthyretin Cardiac Amyloidosis (ATTR-CM) carrying heterozygous mutation in the TTR gene (i.e., p.Val30Met). The patient-derived iPSC lines showed expression of high levels of pluripotency markers, trilineage differentiation capacity, and normal karyotype. The generation of these iPSC lines represents a great tool for modeling patient-specific amyloidosis in vitro, allowing the investigation of the pathological mechanisms related to the disease in different cell types and tissues.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10821799 | PMC |
| http://dx.doi.org/10.1016/j.scr.2023.103215 | DOI Listing |
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