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Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation

Authors :
Juan Melesio
Bernardo Bonilauri
Audrey Li
Paul D. Pang
Ronglih Liao
Ronald M. Witteles
Joseph C. Wu
Karim Sallam
Source :
Stem Cell Research, Vol 74, Iss , Pp 103265- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

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.

Details

Language :
English
ISSN :
18735061
Volume :
74
Issue :
103265-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.3dc8eb7fed9a4bb8a93ce44aa0716423
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2023.103265