Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs)

• Main Authors: Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Paul Gadue, Deborah L. French
• Format: Article
• Language: English
• Published: Elsevier 2016-03-01
• Series: Stem Cell Research
• Online Access: http://www.sciencedirect.com/science/article/pii/S1873506116000258

Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1) gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2) using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.