ID   IMAGINi002-A
AC   CVCL_D0FG
SY   IMAGINE002; EBDR-K142R-iPSCs
DR   BioSamples; SAMEA112903620
DR   hPSCreg; IMAGINi002-A
DR   Wikidata; Q123032674
RX   PubMed=37148821;
CC   From: Imagine Institute; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; p.Lys142Arg (c.425A>G); ClinVar=VCV000029636; Zygosity=Homozygous (PubMed=37148821).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84691; Epidermolysis bullosa dystrophica
DI   ORDO; Orphanet_303; Dystrophic epidermolysis bullosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37148821; DOI=10.1016/j.scr.2023.103104;
RA   Vincent C., Lefort N., Hamlin M., Banal C., Hovnanian A., Izmiryan A.;
RT   "Generation and characterization of induced pluripotent stem cell
RT   lines from two patients with recessive dystrophic epidermolysis
RT   bullosa.";
RL   Stem Cell Res. 69:103104-103104(2023).
//