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• W2884202301 abstract "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 multisystem 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." @default.
• W2884202301 created "2018-08-03" @default.
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• W2884202301 date "2018-07-03" @default.
• W2884202301 modified "2023-10-02" @default.
• W2884202301 title "A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and <i>in vitro</i> testing of novel therapeutics" @default.
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• W2884202301 doi "https://doi.org/10.1080/13506129.2018.1489228" @default.
• W2884202301 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6319917" @default.
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