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. 2023 Oct:72:103215.
doi: 10.1016/j.scr.2023.103215. Epub 2023 Sep 27.

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

Bernardo Bonilauri  1 , Hye Sook Shin  1 , Min Htet  2 , Christopher D Yan  3 , Ronald M Witteles  1 , Karim Sallam  1 , Joseph C Wu  4
Affiliations

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

Bernardo Bonilauri et al. Stem Cell Res. 2023 Oct.

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.

Keywords: Amyloid; Cardiac amyloidosis; Pluripotency; Stem cells; TTR; Transthyretin; iPSC.

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Conflict of interest statement

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Joseph C. Wu reports a relationship with Greenstone Biosciences that includes: co-founder & board member.

Figures

Fig. 1.
Fig. 1.
Characterization of cardiac amyloidosis patient-derived iPSC lines (SCVIi066-A and SCVIi067-A) with c.148G > A mutation in TTR gene.
See this image and copyright information in PMC

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