Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.

Takahiro SuezawaShuhei KanagakiYohei KorogiKazuhisa NakaoToyohiro HiraiKoji MurakamiMasatoshi HagiwaraShimpei Gotoh

Published in: Respiratory research (2021)

The HPS1 patient-specific iPSCs and their gene-corrected counterparts generated in this study could be a new research tool for understanding the pathogenesis of HPSIP caused by HPS1 deficiency in humans.

Keyphrases

genome wide
induced pluripotent stem cells
copy number
case report