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.
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DOI：
10.1016/j.scr.2023.103215
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发表时间：
2023-10
影响因子：
1.2
通讯作者：
Wu, Joseph C.
中科院分区：
文献类型：
--
作者：
Bonilauri, Bernardo;Shin, Hye Sook;Htet, Min;Yan, Christopher D.;Wittles, Ronald M.;Sallam, Karim;Wu, Joseph C.
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.
DOI：
10.1016/j.jaccao.2021.06.006
发表时间：
2021-10
期刊：
JACC. CardioOncology
影响因子：
--
作者：
Griffin JM;Rosenthal JL;Grodin JL;Maurer MS;Grogan M;Cheng RK
通讯作者：
Cheng RK
DOI：
10.1146/annurev-pathmechdis-012418-013046
发表时间：
2019-01-24
期刊：
Annual review of pathology
影响因子：
--
作者：
Lau E;Paik DT;Wu JC
通讯作者：
Wu JC
DOI：
10.1080/13506129.2018.1489228
发表时间：
2018-09
期刊：
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
影响因子：
--
作者：
Giadone RM;Rosarda JD;Akepati PR;Thomas AC;Boldbaatar B;James MF;Wilson AA;Sanchorawala V;Connors LH;Berk JL;Wiseman RL;Murphy GJ
通讯作者：
Murphy GJ