Cristo Fernando, Inácio José M, Rosas Graça, Carreira Isabel Marques, Melo Joana Barbosa, de Almeida Luís Pereira, Mendes Patrícia, Martins Duarte Saraiva, Maio José, Anjos Rui, Belo José A
Stem Cells and Development Laboratory, CEDOC, NOVA Medical School, Universidade Nova de Lisboa, Lisboa, Portugal.
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC.IBILI Consortium, University of Coimbra, Coimbra, Portugal; CIMAGO - Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Portugal.
Stem Cell Res. 2017 Dec;25:152-156. doi: 10.1016/j.scr.2017.10.019. Epub 2017 Oct 31.
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.
从一名患有先天性心脏病（CHD）和内脏反位缺陷且携带DAND5基因p.R152H变异的患者的脱落肾上皮（ERE）细胞中产生了一条人诱导多能干细胞（iPSC）系。使用仙台病毒重编程系统，通过人OSKM转录因子产生了无转基因的iPSC。所建立的iPSC系具有特定的杂合改变、稳定的核型，表达多能性标志物，并产生了可在体外向三个胚层分化的胚状体。该iPSC系为研究心肌细胞增殖的分子机制以及药物测试提供了有用的资源。
