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

被引：0

作者：

Bonilauri, Bernardo ^{[1
,2
]}

Shin, Hye Sook ^{[1
,2
]}

Htet, Min ^{[1
]}

Yan, Christopher D. ^{[1
,3
]}

Witteles, Ronald M. ^{[1
,2
]}

Sallam, Karim ^{[1
,2
]}

Wu, Joseph C. ^{[1
,2
,4
]}

机构：

[1] Stanford Univ, Sch Med, Stanford Cardiovasc Inst, Stanford, CA 94305 USA

[2] Stanford Univ, Sch Med, Dept Med, Div Cardiol, Stanford, CA 94305 USA

[3] Greenstone Biosci, Palo Alto, CA 94305 USA

[4] 265 Campus Dr,G1120B, Stanford, CA 94305 USA

来源：

STEM CELL RESEARCH | 2023年 / 72卷

基金：

美国国家卫生研究院;

关键词：

iPSC; Stem cells; Pluripotency; TTR; Transthyretin; Amyloid; Cardiac amyloidosis;

D O I：

暂无

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

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页数：5

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