Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

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• 作者：Jean Ann Maguire^a ; ^b ; Lin Lu^a ; ^b ; Jason A. Mills^a ; ^b ; Lisa M. Sullivan^b ; Alyssa Gagne^a ; ^b ; Paul Gadue^a ; ^b ; Deborah L. French^a ; ^b ;
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：16
• 期：2
• 页码：233-235
• 全文大小：479 K

文摘

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.