从一名患有内脏反位缺陷及相关先天性心脏异常且携带DAND5错义改变的患者身上生成人诱导多能干细胞系。
Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.
作者信息
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
机构信息
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.
出版信息
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。
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