Article
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.
The Journal of clinical investigation - 16 Jan 2024
Sun Yuliang L, Hennessey Erin E, Heins Hillary, Yang Ping, Villacorta-Martin Carlos, Kwan Julian, Gopalan Krithi, James Marianne, Emili Andrew, Cole F Sessions, Wambach Jennifer A, Kotton Darrell N
Abstract excerpt
Mutations in ATP-binding cassette A3 (ABCA3), a phospholipid transporter critical for surfactant homeostasis in pulmonary alveolar type II epithelial cells (AEC2s), are the most common genetic causes of childhood interstitial lung disease (chILD). Treatments for patients with pathological variants of ABCA3 mutations are limited, in part due to a lack of understanding of disease pathogenesis resulting from an...
Topics
- Humans
- Alveolar Epithelial Cells
- ATP-Binding Cassette Transporters
- Lung
- Lung Diseases, Interstitial
- Mutation
- Pluripotent Stem Cells
- Surface-Active Agents