Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa


Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen. We have generated Induced Pluripotent Stem Cells (iPSCs) from two RDEB patients' fibroblasts harboring homozygous recurrent mutations in COL7A1. Their pluripotent state was confirmed by gene and protein expression of stem cell markers OCT4, SOX2, TRA1/60 and SSEA4. Embryoid body formation followed by immunostaining and TaqMan scorecard analysis confirmed the capacity of RDEB iPSCs to differentiate into cell types from the three germ layers in vitro. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Vincent C, Lefort N, Hamlin M, Banal C, Hovnanian A, Izmiryan A
Journal Stem cell research
Publication Date 2023 Jun;69:103104
PubMed 37148821
DOI 10.1016/j.scr.2023.103104

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