title: Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
abstract: 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.
authors.affiliation: 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.
authors.forename: Jean Ann
authors.initials: JA
authors.lastname: Maguire
authors.affiliation: 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.
authors.forename: Lin
authors.initials: L
authors.lastname: Lu
authors.affiliation: 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.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Mills
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and University of Pennsylvania, United States.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Sullivan
authors.affiliation: 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.
authors.forename: Alyssa
authors.initials: A
authors.lastname: Gagne
authors.affiliation: 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.
authors.forename: Paul
authors.initials: P
authors.lastname: Gadue
authors.affiliation: 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.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: French
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D065150:Cellular Reprogramming; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005434:Flow Cytometry; D022861:Hermanski-Pudlak Syndrome / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins; D014157:Transcription Factors