Generation of two induced pluripotent stem cell lines from patients with cardiac amyloidosis carrying heterozygous transthyretin (TTR) mutation
Year: 2023
Type: 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.
Source: Stem Cell Research
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,210
Awards: Cardiotoxicity Induced by Breast Cancer Therapy: A Close Look in the Race Differences, G2168952822, G3331948458, G4999666563, G5170875372, G5171724592, Multiscale Systems to Elucidate Susceptibility and Cardioprotective Mechanisms in Cardio-oncology, Single-cell Multi-omic Profiling of Drug Responses Using Pooled iPSC-CM Differentiation, Elucidating ECM Signaling in Cardiac Organoids with Machine Learning and Single-cell Multiomics, Elucidating Anthracycline-Induced Cell Type-Specific Cardiovascular Toxicity with CRISPRi/a Screens
OpenAlex ID: W4387107376