Article
Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.
Pediatric pulmonology - 1 May 2025
Jinson Swetha, Shanthikumar Shivanthan, Werder Rhiannon B
Abstract excerpt
RATIONALE: Genetic testing has significantly improved the diagnosis of childhood interstitial lung diseases (chILD), which have long challenged clinicians due to their heterogeneity and poor characterization. It is now imperative to study variants of unknown significance (VUS) to identify pathogenic mutations to optimize diagnosis and screening in patients. Furthermore, the limited treatment options for patients...
Read the complete abstract on PubMedTopics
- Humans
- Induced Pluripotent Stem Cells
- Lung Diseases, Interstitial
- Child
- Hermanski-Pudlak Syndrome
- Mutation
