Ontology highlight
ABSTRACT:
SUBMITTER: Leung A
PROVIDER: S-EPMC3841264 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Stem cell reports 20131031 5
Familial transthyretin amyloidosis (ATTR) is an autosomal-dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR, protein secreted from the liver aggregates and forms fibrils in target organs, chiefly the heart and peripheral nervous system, highlighting the need for a model capable of recapitulating the multisystem complexity of this clinically variable disease. Here, we describe the directed differentiation of ATTR patient-specific iPSC ...[more]