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Cellosaurus RDEB-iPSC26 (CVCL_GQ03)

[Text version]
Cell line name RDEB-iPSC26
Accession CVCL_GQ03
Resource Identification Initiative To cite this cell line use: RDEB-iPSC26 (RRID:CVCL_GQ03)
Comments From: Department of Dermatology, Jikei University School of Medicine; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2214; COL7A1; Simple; p.Arg669Ter (c.2005C>T); ClinVar=VCV000374052; Zygosity=Heterozygous (PubMed=27558600).
  • Mutation; HGNC; 2214; COL7A1; Simple; p.Glu2857Ter (c.8569G>T); ClinVar=VCV001339053; Zygosity=Heterozygous (PubMed=27558600).
Disease Epidermolysis bullosa dystrophica, autosomal recessive (NCIt: C156446)
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (ORDO: Orphanet_79408)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=27558600; DOI=10.1016/j.scr.2016.05.003
Itoh M., Kawagoe S., Tamai K., Okano H.J., Nakagawa H.
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa (RDEB) carrying two compound heterozygous mutations in the COL7A1 gene.
Stem Cell Res. 17:32-35(2016)

Cross-references
Encyclopedic resources Wikidata; Q54949556
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number14