A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics.
A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics.
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DOI：
10.1080/13506129.2018.1489228
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发表时间：
2018-09
期刊：
影响因子：
--
通讯作者：
Murphy GJ
中科院分区：
文献类型：
--
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
遗传性甲状腺转蛋白淀粉样变性（ATTR淀粉样变性）是一种常染色体显性蛋白折叠疾病，由100多种不同的甲状腺转蛋白（TTR）基因突变引起。在ATTR淀粉样变中，肝脏分泌的蛋白质在下游靶器官，主要是心脏和周围神经系统聚集并形成淀粉样原纤维。很少有ATTR淀粉样变的动物模型存在，没有一个能概括与患者疾病发病机制相关的多系统复杂性和临床变异性。诱导多能干细胞（iPSCs）将彻底改变我们研究人类发育、疾病模型的方式，并可能治疗患有高度可变的多系统疾病（如ATTR淀粉样变）的患者。在这里，我们从先前重编程的iPSC系库和来自ATTR淀粉样变性患者的可重编程血液样本中充分表征了六个具有代表性的iPSC系。这种独特的资源，在这里描述，可以用来研究不同的障碍。
Hereditary transthyretin amyloidosis (ATTR amyloidosis) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR amyloidosis, protein secreted from the liver aggregates and forms amyloid fibrils in downstream target organs, chiefly the heart and peripheral nervous system. Few animal models of ATTR amyloidosis exist and none recapitulate the multisystem complexity and clinical variability associated with disease pathogenesis in patients. Induced pluripotent stem cells (iPSCs) stand to revolutionize the way we study human development, model disease, and perhaps treat patients afflicted with highly-variable multi-system diseases such as ATTR amyloidosis. Here, we fully characterize six representative iPSC lines from a library of previously reprogrammed iPSC lines and reprogrammable blood samples derived from ATTR amyloidosis patients. This unique resource, described herein, can be harnessed to study diverse disorder.
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影响因子：
120.7
作者：
Berk, John L.;Suhr, Ole B.;Obici, Laura;Sekijima, Yoshiki;Zeldenrust, Steven R.;Yamashita, Taro;Heneghan, Michael A.;Gorevic, Peter D.;Litchy, William J.;Wiesman, Janice F.;Nordh, Erik;Corato, Manuel;Lozza, Alessandro;Cortese, Andrea;Robinson-Papp, Jessica;Colton, Theodore;Rybin, Denis V.;Bisbee, Alice B.;Ando, Yukio;Ikeda, Shu-ichi;Seldin, David C.;Merlini, Giampaolo;Skinner, Martha;Kelly, Jeffery W.;Dyck, Peter J.
通讯作者：
Dyck, Peter J.
影响因子：
64.8
作者：
Itzhaki, Ilanit;Maizels, Leonid;Gepstein, Lior
通讯作者：
Gepstein, Lior
影响因子：
46.9
作者：
Gouon-Evans, Valerie;Boussemart, Lise;Keller, Gordon
通讯作者：
Keller, Gordon
影响因子：
1.1
作者：
Chun YS;Byun K;Lee B
通讯作者：
Lee B
影响因子：
4.8
作者：
Parman, Yesim;Adams, David;Coelho, Teresa
通讯作者：
Coelho, Teresa