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.

由于对FOXF1变异体和 ACD/MPV 表型之间的因果关系了解不足，基于FOXF1基因的遗传改变诊断肺泡毛细血管发育不良伴肺静脉错位 (ACD/MPV)变得复杂。在这里，我们报告了来自两名 ACD/MPV 患者的人类 iPSC 系的生成，每个患者都携带不同的杂合FOXF1突变，这使得疾病建模能够进一步研究FOXF1变体在体外的影响。iPSC 系是使用非整合仙台病毒从皮肤成纤维细胞产生的。这些品系表达多能性基因，保留杂合突变并能够三系分化。