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Stem Cell Reports ; 15(1): 242-255, 2020 07 14.
Article in English | MEDLINE | ID: mdl-32619491

ABSTRACT

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.


Subject(s)
Access to Information , Databases as Topic , Induced Pluripotent Stem Cells/pathology , alpha 1-Antitrypsin Deficiency/pathology , Adolescent , Adult , Aged , Aged, 80 and over , CRISPR-Cas Systems/genetics , Cell Differentiation , Cell Lineage , Endoderm/pathology , Female , Gene Editing , Genetic Loci , Genotype , Hepatocytes/pathology , Humans , Lung/diagnostic imaging , Lung/pathology , Male , Middle Aged , Mutation/genetics , Phenotype , Transcriptome/genetics , alpha 1-Antitrypsin/genetics , alpha 1-Antitrypsin Deficiency/diagnostic imaging , alpha 1-Antitrypsin Deficiency/genetics
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