title: Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs).
abstract: 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.
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, 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, 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, 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, United States; 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, United States; 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, United States; University of Pennsylvania, United States.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: French
mesh_terms: D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D065150:Cellular Reprogramming; D002675:Child, Preschool; D005091:Exons; 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; D008297:Male; 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; D014183:Transplantation, Heterologous
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins; D014157:Transcription Factors