NDLI: Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tolar, Jakub Xia, Lily Riddle, Megan J. Lees, Chris J. Eide, Cindy R. McElmurry, Ron T. Titeux, Matthias Osborn, Mark J. Lund, Troy C. Hovnanian, Alain Wagner, John E. Blazar, Bruce R.
Description	Country affiliation: United States Author Affiliation: Tolar J ( Division of Hematology-Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA. tolar003@umn.edu)
Abstract	Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder caused by mutations in the COL7A1 gene-encoding type VII collagen (Col7), the major component of anchoring fibrils at the dermal-epidermal junction. Individuals with RDEB develop painful blisters and mucosal erosions, and currently, there are no effective forms of therapy. Nevertheless, some advances in patient therapy are being made, and cell-based therapies with mesenchymal and hematopoietic cells have shown promise in early clinical trials. To establish a foundation for personalized, gene-corrected, patient-specific cell transfer, we generated induced pluripotent stem (iPS) cells from three subjects with RDEB (RDEB iPS cells). We found that Col7 was not required for stem cell renewal and that RDEB iPS cells could be differentiated into both hematopoietic and nonhematopoietic lineages. The specific epigenetic profile associated with de-differentiation of RDEB fibroblasts and keratinocytes into RDEB iPS cells was similar to that observed in wild-type (WT) iPS cells. Importantly, human WT and RDEB iPS cells differentiated in vivo into structures resembling the skin. Gene-corrected RDEB iPS cells expressed Col7. These data identify the potential of RDEB iPS cells to generate autologous hematopoietic grafts and skin cells with the inherent capacity to treat skin and mucosal erosions that typify this genodermatosis.
File Format	HTM / HTML
ISSN	0022202X
e-ISSN	15231747
DOI	10.1038/jid.2010.346
Journal	Journal of Investigative Dermatology
Issue Number	4
Volume Number	131
Language	English
Publisher	Elsevier
Publisher Date	2011-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Dermatology Epidermolysis Bullosa Dystrophica Genes, Recessive Hematopoietic Stem Cell Transplantation Mesenchymal Stem Cell Transplantation Pluripotent Stem Cells Cytology Cell Differentiation Physiology Cells, Cultured Collagen Type Vii Genetics Pathology Therapy Epigenesis, Genetic Fibroblasts In Vitro Techniques Keratinocytes Individualized Medicine Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology Dermatology

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