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

共 50 条

[31] Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations
Bchetnia, Mbarka
Martineau, Laurie
Racine, Veronique
Powell, Julie
McCuaig, Catherine
Morin, Charles
Duperee, Audrey
Gros-Louis, Francois
Laprise, Catherine
[J]. STEM CELL RESEARCH, 2022, 61
[32] Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa
Wong, Tracy
Gammon, Luke
Liu, Lu
Mellerio, Jemima E.
Dopping-Hepenstal, Patricia J. C.
Pacy, John
Elia, George
Jeffery, Rosemary
Leigh, Irene M.
Navsaria, Harshad
McGrath, John A.
[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 (09) : 2179 - 2189
[33] TRIAL OF FIBROBLAST CELL THERAPY FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
Venugopal, S. S.
Yan, H.
Frew, J. W.
Tran, K.
Melbourne, W.
Nelson, J.
Sturm, M.
Fogarty, F.
Marinkovich, P.
Igawa, S.
Ishida-Yamamoto, A.
Murrell, D. F.
[J]. WOUND REPAIR AND REGENERATION, 2010, 18 (04) : A74 - A74
[34] A close look into the stroma of Squamous Cell Carcinomas from patients with Recessive Dystrophic Epidermolysis Bullosa
Guerrero-Aspizua, S.
Conti, C. J.
Beato, M.
Lopez-Gutierrez, J. C.
De Lucas, R.
Maseda, R.
Villar, A.
Garcia-Martin, A.
Escamez, M.
del Rio, M.
[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S291 - S291
[35] Generation of two induced pluripotent stem cell lines from patients with Down syndrome
Zhu, Wenjuan
Liu, Wenqiang
Yu, Rebecca
Manning, Melanie
Romfh, Anitra Waran
Wu, Joseph C.
[J]. STEM CELL RESEARCH, 2023, 72
[36] Generation of two induced pluripotent stem cell lines from patients with Williams syndrome
Dai, Yuanyuan
Zhu, Wenjuan
Banuelos, Amira G. Flores
Li, Juana
Mukherjee, Souhrid
Algaze, Claudia
Wu, Joseph C.
[J]. STEM CELL RESEARCH, 2024, 78
[37] Adult stem cells for treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Wagner, J. E.
Ishida-Yamamoto, A.
McGrath, J. A.
Keene, D.
Hordinsky, M.
Blazar, B. R.
Tolar, J.
[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S55 - S55
[38] Natural history of wounds in patients with recessive dystrophic epidermolysis bullosa
Teng, C.
Solis, D.
Tang, J.
Barriga, M.
Marinkovich, M. P.
[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2019, 139 (05) : S43 - S43
[39] Enteral iron absorption in patients with recessive dystrophic epidermolysis bullosa
Augsburger, Bret D.
Lucky, Anne W.
Marathe, Kalyani
Tarango, Cristina
[J]. PEDIATRIC DERMATOLOGY, 2020, 37 (05) : 817 - 820
[40] Anesthetic management of pediatric patients with recessive dystrophic epidermolysis bullosa
Lin, YC
[J]. ANESTHESIA AND ANALGESIA, 1998, 86 (2S):

← 1 2 3 4 5 →