title: Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs).
abstract: Poikiloderma with neutropenia (PN, Clericuzio-type poikiloderma with neutropenia) is a rare autosomal recessive disorder caused by biallelic mutations in the USB1 gene (Alias C16orf57 and MPN1). To date, there have been only 37 reported cases worldwide of this disorder that presents with neutropenia, early onset poikiloderma, respiratory infections, palmo-plantar hyperkeratosis, and skeletal defects. Here we described the generation of human induced pluripotent stem cell lines (PN1 and PN2) from the peripheral blood of a 1-year-old patient using the dox-inducible STEMCCA vector. This patient presented with bacteremia, pneumonia, and neutropenia. Analysis of bone marrow demonstrated normal cellularity with trilineage hematopoiesis and neutropenia.
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Mills
authors.affiliation: Division of Pulmonary, Allergy, and Critical Care Medicine, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
authors.forename: Kristin M
authors.initials: KM
authors.lastname: Hudock
authors.affiliation: Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Spencer K
authors.initials: SK
authors.lastname: Sullivan
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Pamela
authors.initials: P
authors.lastname: Herrera
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Sullivan
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Gadue
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: French
mesh_terms: D002460:Cell Line; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism*; D009503:Neutropenia / Q000378:metabolism* / Q000473:pathology; D012868:Skin Abnormalities / Q000378:metabolism* / Q000473:pathology