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

被引：0
|
作者：
Vincent, Camille [1 ,2 ]
Lefort, Nathalie [3 ]
Hamlin, Mathieu [3 ]
Banal, Celine [3 ]
Hovnanian, Alain [1 ,2 ,4 ]
Izmiryan, Araksya [1 ,2 ,5 ]
机构：
[1] INSERM, Imagine Inst, Lab Genet Skin Dis, UMR 1163, Paris, France
[2] Univ Paris Cite, Paris, France
[3] INSERM, Imagine Inst, iPSCs Core Facil, UMR 1163, Paris, France
[4] Necker Hosp Sick Children, Depatment Genet, Paris, France
[5] INSERM, Imagine Inst, Lab Genet SKIN Dis, UMR 1163, Paris, France
来源：
STEM CELL RESEARCH | 2023年 / 69卷
关键词：
VII COLLAGEN; MUTATIONS;
D O I：
10.1016/j.scr.2023.103104
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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 ho-mozygous 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.
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页数：5
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