Induced Pluripotent Stem Cells from Individuals with Recessive Dystrophic Epidermolysis Bullosa

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منابع مشابه

Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.

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Spontaneous reversion of disease-causing mutations has been observed in some genetic disorders. In our clinical observations of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genodermatosis caused by loss-of-function mutations in COL7A1 that results in a deficit of type VII collagen (C7), we have observed patches of healthy-appearing skin ...

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Three Brothers with Recessive Dystrophic Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII c...

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The skin biopsy was cut into 2 × 2 mm pieces. The dermis was peeled off and trapped under a sterile cover slip. Human fibroblast media consisted of DMEM (Invitrogen, Carlsbad, CA), 10% fetal bovine serum (Invitrogen), and 1% penicillin/streptomycin (Invitrogen). Medium was changed every 2 days until the culture became 90% confluent, at which point it was passaged using 0.25% trypsin EDTA. Human...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2011

ISSN: 0022-202X

DOI: 10.1038/jid.2010.346