title: Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder.
abstract: Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC showed normal karyotype. The line offers a good platform to study MPS II pathophysiology, for drug testing, early biomarker discovery and gene therapy studies.
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Eszter
authors: E
authors: Varga
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Csilla
authors: C
authors: Nemes
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Eszter
authors: E
authors: Kovács
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: István
authors: I
authors: Bock
authors: Department of Metabolic Diseases, Heim Pál Children's Hospital, Budapest, Hungary.
authors: Norbert
authors: N
authors: Varga
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Anita
authors: A
authors: Fehér
authors: BioTalentum Ltd., Gödöllő, Hungary; Molecular Animal Biotechnology Laboratory, Szent István University, Gödöllő, Hungary.
authors: András
authors: A
authors: Dinnyés
authors: BioTalentum Ltd., Gödöllő, Hungary. Electronic address: julianna.kobolak@biotalentum.hu.
authors: Julianna
authors: J
authors: Kobolák
mesh_terms: D000328:Adult; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D058732:Embryoid Bodies / Q000166:cytology / Q000378:metabolism; D005260:Female; D005822:Genetic Vectors / Q000235:genetics / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D016086:Lentivirus / Q000235:genetics; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008856:Microscopy, Fluorescence; D016532:Mucopolysaccharidosis II / Q000235:genetics / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human; D014157:Transcription Factors