Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)
oleh: Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa Gagne, Paul Gadue, Deborah L. French
Format: | Article |
---|---|
Diterbitkan: | Elsevier 2016-03-01 |
Deskripsi
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9) based on genetic mutations in 9 unique genes. Here we describe the generation of an HPS1 iPSC line (CHOPHPS1) using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying a duplicative mutation in the HPS1 gene. The patient presented with oculocutaneous albinism, early pulmonary fibrosis, and hemorrhagic diathesis.