AI Article Synopsis
- Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) is caused by mutations in the TTR gene, leading to health complications.
- The study created two induced pluripotent stem cell (iPSC) lines from ATTR-PN patients with specific TTR mutations, which showed normal cell characteristics and the ability to differentiate into various cell types.
- These iPSC lines are important for studying ATTR-PN's mechanisms and developing patient-specific models for better understanding and potential treatments.
Article Abstract
Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) results from specific TTR gene mutations. In this study, we generated two induced pluripotent stem cell (iPSC) lines derived from ATTR-PN patients with heterozygous TTR gene mutations (Ala97Ser and Phe64Leu). These iPSC lines exhibited normal morphology, karyotype, high pluripotency marker expression, and differentiation into cells representing all germ layers. The generation of these iPSC lines serve as a valuable tool for investigating the mechanisms of ATTR-PN across various cell types and facilitating patient-specific in vitro amyloidosis modeling.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883469 | PMC |
| http://dx.doi.org/10.1016/j.scr.2023.103265 | DOI Listing |
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