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.

引用

页数：5

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