biostudies-literatureOuchi KMinistry of Education, Culture, Sports, Science and TechnologyJapan Society for the Promotion of Sciencee24590https://www.ebi.ac.uk/biostudies/studies/S-EPMC10835262biostudies-literatureUnknown10(2)Hereditary transthyretin (TTR) amyloidosis (ATTRv amyloidosis) is autosomal dominant and caused by mutation of <i>TTR</i> gene. Heterozygous ATTR Tyr114Cys (p.Tyr134Cys) amyloidosis is a lethal disease with a life expectancy of about 10 years after onset of the disease. However, the molecular pathogenesis of ATTR Tyr114Cys amyloidosis is still largely unknown. In this study, we took advantage of disease-specific induced pluripotent stem (iPS) cells and generated & characterized the heterozygous ATTR Tyr114Cys amyloidosis-specific iPS cells (Y114C iPS cells), to determine whether Y114C iPS cells could be useful for elucidating the pathogenesis of ATTR Tyr114Cys amyloidosis. We successfully differentiated heterozygous Y114C iPS cells into hepatocyte like cells (HLCs) mainly producing TTR proHeliyonCharacterization of heterozygous ATTR Tyr114Cys amyloidosis-specific induced pluripotent stem cells.PMC1083526215K1500617K19498Ueda MInomata YTasaki MIsono KShiraki NJono HEra TAndo YOhya YKume SOuchi KfalseCharacterization of heterozygous ATTR Tyr114Cys amyloidosis-specific induced pluripotent stem cells.Hereditary transthyretin (TTR) amyloidosis (ATTRv amyloidosis) is autosomal dominant and caused by mutation of <i>TTR</i> gene. Heterozygous ATTR Tyr114Cys (p.Tyr134Cys) amyloidosis is a lethal disease with a life expectancy of about 10 years after onset of the disease. However, the molecular pathogenesis of ATTR Tyr114Cys amyloidosis is still largely unknown. In this study, we took advantage of disease-specific induced pluripotent stem (iPS) cells and generated & characterized the heterozygous ATTR Tyr114Cys amyloidosis-specific iPS cells (Y114C iPS cells), to determine whether Y114C iPS cells could be useful for elucidating the pathogenesis of ATTR Tyr114Cys amyloidosis. We successfully differentiated heterozygous Y114C iPS cells into hepatocyte like cells (HLCs) mainly producing TTR pro2024-01-01T00:00:00Z2024 Jan2026-07-14T18:22:17.246Z2025-04-06T13:48:42.061ZS-EPMC108352623831269510.1016/j.heliyon.2024.e24590