1型赫尔曼斯基-普德拉克综合征（HPS1）诱导多能干细胞（iPSC）的生成。
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
作者信息
Maguire Jean Ann, Lu Lin, Mills Jason A, Sullivan Lisa M, Gagne Alyssa, Gadue Paul, French Deborah L
机构信息
Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, United States; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and University of Pennsylvania, United States.
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and University of Pennsylvania, United States.
出版信息
Stem Cell Res. 2016 Mar;16(2):233-5. doi: 10.1016/j.scr.2016.01.014. Epub 2016 Jan 14.
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.
Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性疾病，其特征是溶酶体相关细胞器（如黑素小体和血小板致密颗粒）存在缺陷。根据9个独特基因的基因突变，该疾病被分为9种不同的亚型（HPS1-HPS9）。在此，我们描述了使用Cre可切除的多顺反子STEMCCA慢病毒生成HPS1诱导多能干细胞系（CHOPHPS1）的过程。该细胞系源自一名携带HPS1基因重复突变患者的人成纤维细胞。该患者表现为眼皮肤白化病、早期肺纤维化和出血素质。
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