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Generation of a human induced pluripotent stem cell panel from a family with a heterozygous RPS19 mutation including healthy wild-type, silent carrier and Diamond-Blackfan anemia individuals
作者Astrid Hagelkruys; Elisabeth Stein; Ellen Mosca; Nicole Leeb; Manuela Kinzer; Michelle Foong-Sobis; Bianca V. Gapp; Emanuel Tenorio; Sofia Aligianni; Arabella Meixner; Leo Karger; Chukwuma Agu; Jennifer Volz-Glaser; Josef M. Penninger
作者单位Department of Laboratory Medicine, Medical University of Vienna, Austria; Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria; Doctoral School of the Medical University of Vienna, Austria; Department of Pediatrics, St. Anna Children’s Hospital, Medical University Vienna, Austria; St Anna Children’s Cancer Research Institute, Vienna, Austria; ABS Biotechnologies GmbH, Tulln, Austria; Helmholtz Centre for Infection Research, Braunschweig, Germany; Department of Medical Genetics, Life Science Institute, University of British Columbia, Vancouver, Canada
Establishment of a human induced pluripotent stem cell line, KMUGMCi011-A, from a patient bearing a frameshift mutation in the KMT2D gene leading Kabuki syndrome 1
作者Hiroki Ura; Takako Hiyoshi; Yo Niida
作者单位Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan
Generation of high-quality reference control panels of human induced pluripotent stem cell clones from fibroblasts
作者Ellen Mosca; Elisabeth Stein; Jiss John; Manuela Kinzer; Maria Novatchkova; Harald Scheuch; Chukwuma Agu; Georg Stary; Josef M. Penninger; Arabella Meixner; Jennifer Volz-Glaser
作者单位Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna BioCenter (VBC), Vienna, Austria; ABS Biotechnologies GmbH, Tulln, Austria; Department of Dermatology, Medical University of Vienna, Austria; Department of Laboratory Medicine, Medical University of Vienna, Austria; Helmholtz Centre for Infection Research, Braunschweig, Germany; Department of Medical Genetics, Life Science Institute, University of British Columbia, Vancouver, Canada
Generation of high-quality reference control panels of human induced pluripotent stem cell clones from PBMCs
作者Elisabeth Stein; Ellen Mosca; Jiss John; Manuela Kinzer; Maria Novatchkova; Harald Scheuch; Chukwuma Agu; Georg Stary; Josef M. Penninger; Arabella Meixner; Jennifer Volz-Glaser
作者单位Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna BioCenter (VBC), Vienna, Austria; ABS Biotechnologies GmbH, Tulln, Austria; Department of Dermatology, Medical University of Vienna, Austria; Department of Laboratory Medicine, Medical University of Vienna, Austria; Helmholtz Centre for Infection Research, Braunschweig, Germany; Department of Medical Genetics, Life Science Institute, University of British Columbia, Vancouver, Canada
Two iPSC lines with frameshift mutations in FTSJ1 as models for X-linked non-syndromic intellectual disability
作者S. Edwards; J. Rhode; L. Hagenau; M.F. Hossain; T. Sura; A. Tzvetkova; B. Nowack; L.R. Jensen; A.W. Kuss
作者单位Human Molecular Genetics Group, Department of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany; Institute of Bioinformatics, University Medicine Greifswald, Greifswald, Germany; SensID GmbH, Rostock, Germany
Generation of isogenic gene-corrected cell lines from a USH2A-RP patient-derived iPS cell line
作者Verónica Del Buey Furió; Belén García-Bohórquez; Gema García-García; M. Esther Gallardo; María José Gamundi; Zdenka Ellederova; Carmen Ayuso; José M. Millán; Slaven Erceg; Dunja Lukovic
作者单位Retinal Degeneration Lab, FCV Research Center Principe Felipe, Valencia, Spain; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Center for Biomedical Network Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Translational Research with iPS cells Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain; Unitat de Genètica Molecular, Consorci Sanitari de Terrassa, Terrassa, Spain; Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov, Czech Republic; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Stem Cell Therapies in Neurodegenerative Diseases, Centro de Investigación Principe Felipe, Valencia, Spain; Retinal Degeneration Lab, Departamento Producción y Sanidad Animal, Salud Pública Veterinaria y Ciencia y Tecnología de los Alimentos, Facultad de Veterinaria, Universidad Cardenal Herrera-CEU, CEU Universities, Valencia, Spain
Establishment of human induced pluripotent stem cell lines and isogenic gene-corrected controls from three patients with prolidase deficiency
作者Reecha Suri; Kevin Emmerich; Sahana Manohar-Sindhu; Elyse MacCall; Rebecca L Harper; Robin Schwartzbeck; Rebecca Huffstutler; Elisa Ferrante; Xuming Tang; Dan Yang; Natalia I Dmitrieva; Yongshun Lin; Jizhong Zou; Carlos R Ferreira; Ivona Aksentijevich; Alexandra F Freeman; Alessandra Brofferio; Cornelia Cudrici; Manfred Boehm
作者单位Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA; College of Medicine, University of Kentucky, Lexington, KY 40536, USA; Cardiac Cellular Systems, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia; Centre for Cardiovascular Biology and Disease Research, La Trobe University, Victoria, Australia; Baker Department of Cardiometabolic Health, University of Melbourne, Victoria, Australia; Monash Alfred Baker Centre for Cardiovascular Research, Monash University, Victoria, Australia; Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA; Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA
Generation of two iPSC lines from ALS patients harboring C9orf72 hexanucleotide repeat expansions
作者Dide Wu; Ana Kojic; Jay P. Ross; Dong Li; Parker Walther; Neelam Goyal; Jacinda Sampson; Joseph C. Wu
作者单位Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Greenstone Biosciences, Palo Alto, CA 94304, USA; Department of Neurology & Neurological Sciences, Stanford Medicine, Palo Alto, CA 94304, USA
Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy
作者Hamel Mahiou; Benjamin Marande; Lina El Kassar; Matthieu Lejars; Hassan Hayat; Christelle Kabore; Laura Brulle-Soumare; Pierre Joanne; Onnik Agbulut; Nejette Lallouche; Karim Wahbi; Teresinha Evangelista; Myriam Mederic; Sandrine Baghdoyan; Céline Bruge; Xavier Nissan; Karine Giraud-Triboult; Quentin Miagoux
作者单位Université Paris-Saclay, Université d’Evry, Inserm, IStem, UMR861, Corbeil-Essonnes, France; IStem, CECS, Corbeil-Essonnes, France; CECS/ISTEM/AFM, StemCARE platform, Research and Technological Innovation Team, Corbeil-Essonnes, France; Institut de Biologie Paris-Seine (IBPS), UMR CNRS 8263, INSERM U1345, Development, Adaptation and Ageing, Sorbonne Université, Paris, France; Institut Imagine, Paris Cardiomyopathy Center Associated Laboratory, Paris, France; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Paris Cité Université, 75006 Paris, France; Muscle Pathology Unit, Institute of Myologie and Neuropathology department Pitié-Salpêtrière Hospital, APHP-Sorbonne Université, Paris, France
Establishment of four induced pluripotent stem cell lines (IGIBi028-A, IGIBi029-A, IGIBi030-A, and IGIBi031-A) from peripheral blood derived cells of Spinocerebellar ataxia Type 12 patients
作者Istaq Ahmad; Shahrumi Reza; Nidhi Singh; Sarika Yadav; Pallavi Singh; Deepak Kumar; Achal Kumar Srivastava; Mohammed Faruq
作者单位Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Department of Neurology, Neurosciences Centre, All India Institutes of Medical Sciences (AIIMS), New Delhi 110029, India; Department of Zoology, University of Allahabad, Prayagraj, Uttar Pradesh 211002, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, Uttar Pradesh, India; Division of Investigations of Human Pathology by Application Genomics and Stem Cells (iHPSCs-AG), India
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