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

Cathelijn E. M. Aarts, Ellie Karampini, Tatjana Wüst, Steven Webbers, Eszter Varga, Judy Geissler, Jan Voorberg, Marieke von Lindern, Ruben Bierings, Emile van den Akker, Taco W. Kuijpers

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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 karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study HPS2 pathophysiology and the basic functions of AP3B1 protein in different cell types.
Original languageEnglish
Article number102444
JournalStem cell research
Publication statusPublished - 1 Jul 2021

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