Cellosaurus cell line RDEB-iPSC26 (CVCL

Cross-references
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; HGNC:2214; COL7A1; Simple; p.Arg669Ter (c.2005C>T); ClinVar=VCV000374052; Zygosity=Heterozygous (PubMed=27558600). Mutation; HGNC; 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 Munenari Itoh, Shiho Kawagoe, Katsuto Tamai, Hirotaka James Okano, Hidemi Nakagawa; 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)
Encyclopedic resources	Wikidata; Q54949556
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	15