ID   RDEB-iPSC26
AC   CVCL_GQ03
DR   Wikidata; Q54949556
RX   PubMed=27558600;
CC   From: Department of Dermatology, Jikei University School of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; p.Arg669Ter (c.2005C>T); ClinVar=VCV000374052; Zygosity=Heterozygous (PubMed=27558600).
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; p.Glu2857Ter (c.8569G>T); ClinVar=VCV001339053; Zygosity=Heterozygous (PubMed=27558600).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156446; Epidermolysis bullosa dystrophica, autosomal recessive
DI   ORDO; Orphanet_79408; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 10-09-24; Version: 14
//
RX   PubMed=27558600; DOI=10.1016/j.scr.2016.05.003;
RA   Itoh M., Kawagoe S., Tamai K., Okano H.J., Nakagawa H.;
RT   "Integration-free T cell-derived human induced pluripotent stem cells
RT   (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa
RT   (RDEB) carrying two compound heterozygous mutations in the COL7A1
RT   gene.";
RL   Stem Cell Res. 17:32-35(2016).
//