IPSCs for chILD disease modelling
2024
Boston University, Boston, USA
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). Here, the researchers report the generation of AEC2s from affected patient induced pluripotent stem cells (iPSCs) carrying homozygous versions of multiple ABCA3 mutations. Using CRISPR/Cas9, they generated gene-corrected and uncorrected iPSCs and ABCA3-mutant reporter lines for in vitro disease modelling. This disease model provides a platform for understanding ABCA3 mutation–mediated mechanisms of alveolar epithelial cell dysfunction that may trigger chILD pathogenesis.
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations
Darrell N. Kotton
Added on: 04-02-2024
[1] https://www.jci.org/articles/view/164274[2] https://www.drugtargetreview.com/news/123243/ipscs-used-to-study-common-genetic-cause-of-child/
