Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain.
Barcelona Stem Cell Bank, Regenerative Medicine Programme, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.
Stem Cell Res. 2023 Sep;71:103189. doi: 10.1016/j.scr.2023.103189. Epub 2023 Aug 28.
Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) from a patient suffering familial transthyretin amyloid cardiomyopathy carrying a c.128G>A (p.Ser43Asn) mutation in the TTR gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for therapeutic discovery.
转甲状腺素蛋白（TTR）淀粉样心肌病（ATTR-CM）是一种由肝细胞异常产生错误折叠的 TTR 蛋白引起的危及生命的疾病，该蛋白随后被系统性释放。其在心脏中的淀粉样沉积与心脏毒性和心力衰竭的进展有关。从患有家族性转甲状腺素蛋白淀粉样心肌病的患者的外周血单核细胞（PBMC）中生成了人诱导多能干细胞（iPSC）系，该患者携带 TTR 基因中的 c.128G>A（p.Ser43Asn）突变。该 iPSC 系为研究疾病病理生理学和用于治疗发现的基于细胞的模型提供了有用的资源。
