Slot Evelien, de Klein Annelies, Rottier Robbert J
Department of Pediatric Surgery, Sophia Children's Hospital, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Stem Cell Res. 2020 Apr;44:101745. doi: 10.1016/j.scr.2020.101745. Epub 2020 Mar 4.
Diagnosing Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV) based on a genetic alteration in the FOXF1 gene, is complicated by the poor understanding of the causal relation between FOXF1 variants and the ACD/MPV phenotype. Here, we report the generation of human iPSC lines from two ACD/MPV patients, each carrying a different heterozygous FOXF1 mutation, which enables disease modeling for further research on the effect of FOXF1 variants in vitro. The iPSC lines were generated from skin fibroblasts using the non-integrating Sendai virus. The lines expressed pluripotency genes, retained the heterozygous mutation and were capable of trilineage differentiation.
基于FOXF1基因的基因改变来诊断伴有肺静脉排列异常的肺泡毛细血管发育不良（ACD/MPV），因对FOXF1变异与ACD/MPV表型之间因果关系的了解不足而变得复杂。在此，我们报告了从两名ACD/MPV患者中生成人诱导多能干细胞（iPSC）系，每名患者携带不同的杂合FOXF1突变，这使得能够进行疾病建模，以进一步研究FOXF1变异在体外的作用。这些iPSC系是使用无整合能力的仙台病毒从皮肤成纤维细胞中生成的。这些细胞系表达多能性基因，保留了杂合突变，并能够进行三系分化。
