Article
Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1.
Stem cell research - 1 Jul 2021
Aarts Cathelijn E M, Karampini Ellie, Wüst Tatjana, Webbers Steven, Varga Eszter, Geissler Judy, Voorberg Jan, von Lindern Marieke, Bierings Ruben, van den Akker Emile, Kuijpers Taco W
Abstract excerpt
Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (c.177delA and c.1839-1842delTAGA). BOECs were reprogrammed with a hOKSM self-silencing polycistronic lentiviral vector, where the generated iPSCs showed normal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.