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

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

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...

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Bibliographic Details
Main Authors: Bernardo Bonilauri, Hye Sook Shin, Min Htet, Christopher D. Yan, Ronald M. Witteles, Karim Sallam, Joseph C. Wu
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:Stem Cell Research
Subjects:
iPSC
Stem cells
Pluripotency
TTR
Transthyretin
Amyloid
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123002015
Description
Summary: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.
ISSN:1873-5061

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