从四名患有与成人发作性肥厚型心肌病（HCM）相关的致病性ALPK3变体的患者中获得人诱导多能干细胞系。
Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).
作者信息
Cheawsamoot Chanatjit, Ramchandani Rohin, Ameen Mohamed, Arthur Ataam Jennifer, Khongphatthanayothin Apichai, Shotelersuk Vorasuk, Karakikes Ioannis
机构信息
Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Interdepartmental Program of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, USA; Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA.
出版信息
Stem Cell Res. 2023 Dec;73:103233. doi: 10.1016/j.scr.2023.103233. Epub 2023 Oct 26.
Loss of function variants in ALPK3 have been associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). However, the underlying pathomechanism remain largely unknown. Here, we generated human iPSC lines from four HCM patients carrying the heterozygous pathogenic variant in ALPK3 (c.2023delC p.Gln675fs). Peripheral blood mononuclear cells (PBMCs) from patients were reprogrammed to induced pluripotent stem cells (iPSCs) with the Sendai virus-based reprogramming method. All four lines display typical iPSC morphology, normal karyotype, expression of pluripotency-associated markers, and trilineage differentiation potential. These iPSC lines represent a valuable resource of ALPK3 patient-derived iPSC lines to the study ALPK3-associated cardiomyopathy.
ALPK3功能丧失变异与扩张型心肌病（DCM）和肥厚型心肌病（HCM）有关。然而，其潜在的发病机制仍 largely未知。在此，我们从四名携带ALPK3杂合致病变异（c.2023delC p.Gln675fs）的HCM患者中生成了人诱导多能干细胞（iPSC）系。采用基于仙台病毒的重编程方法将患者的外周血单个核细胞（PBMC）重编程为诱导多能干细胞（iPSC）。所有四个细胞系均表现出典型的iPSC形态、正常核型、多能性相关标志物的表达以及三系分化潜能。这些iPSC系是研究ALPK3相关心肌病的宝贵的ALPK3患者来源iPSC系资源。
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