Individuals with the genetic disorder alpha-1 antitrypsin deficiency (AATD) are at risk of developing lung and liver disease. Patient induced pluripotent stem cells (iPSCs) have been found to model features of AATD pathogenesis but only a handful of AATD patient iPSC lines have been published. To capture the significant phenotypic diversity of the patient population, we describe here the establishment and characterization of a curated repository of AATD iPSCs with associated disease-relevant clinical data. To highlight the utility of the repository, we selected a subset of iPSC lines for functional characterization. Selected lines were differentiated to generate both hepatic and lung cell lineages and analyzed by RNA sequencing. In addition, two iPSC lines were targeted using CRISPR/Cas9 editing to accomplish scarless repair. Repository iPSCs are available to investigators for studies of disease pathogenesis and therapeutic discovery.

患有遗传性疾病 α-1 抗胰蛋白酶缺乏症 (AATD) 的个体有患肺病和肝病的风险。已发现患者诱导多能干细胞 (iPSC) 可以模拟 AATD 发病机制的特征，但仅发表了少数 AATD 患者 iPSC 系。为了捕捉患者群体显着的表型多样性，我们在此描述了 AATD iPSC 的策划存储库的建立和表征以及相关疾病相关的临床数据。为了突出该存储库的实用性，我们选择了 iPSC 细胞系的子集进行功能表征。对选定的细胞系进行分化，产生肝细胞和肺细胞谱系，并通过 RNA 测序进行分析。此外，使用 CRISPR/Cas9 编辑靶向两个 iPSC 系，以实现无疤痕修复。研究人员可以使用储存库 iPSC 来研究疾病发病机制和治疗发现。