Generation of the induced pluripotent stem cell line (ZSPHARi001-A) from a patient with recessive dystrophic epidermolysis bullosa carrying compound heterozygous mutation in the COL7A1 gene.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102672
Abstract: The COL7A1 gene mutation causes type VII collagen dysfunction, which subsequently leads to recessive dystrophic epidermolysis bullosa (RDEB). Patients who suffer from RDEB experience severe blisters and chronic trauma, which can eventually result in serious… read more here.
Keywords: col7a1; col7a1 gene; stem; mutation ... See more keywords
Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families
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DOI: 10.3390/diagnostics12071525
Abstract: Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin. Dystrophic EB (DEB) includes variants inherited both in an autosomal-dominant or autosomal-recessive… read more here.
Keywords: col7a1 gene; dystrophic epidermolysis; epidermolysis bullosa; epidermolysis ... See more keywords
A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene
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DOI: 10.5021/ad.2022.34.1.81
Abstract: Dear Editor: Pretibial epidermolysis bullosa (PEB) was first described by Kuske in 1946. The author reported two cases of PEB with recurrent blisters in a middle-aged man and his son. PEB is a rare subtype… read more here.
Keywords: col7a1 gene; epidermolysis bullosa; mutations col7a1;