ID   MLi004-A
AC   CVCL_A8HI
SY   iMS
DR   BioSamples; SAMEA8868434
DR   hPSCreg; MLi004-A
DR   Wikidata; Q107116382
RX   PubMed=34284275;
CC   From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; p.Arg682Ter (c.2044C>T); ClinVar=VCV001047976; Zygosity=Heterozygous (PubMed=34284275).
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; c.6900+4A>G (IVS87+4A>G) (p.Gly2278_Gln2300del); ClinVar=VCV000374314; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34284275).
CC   Omics: Array-based CGH.
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_79408; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 6
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RX   PubMed=34284275; DOI=10.1016/j.scr.2021.102463;
RA   Ropret S., Jeriha J., Sorcan T., Rogar M., Zemljic Jokhadar S.,
RA   McGrath J.A., Ilic D., Liovic M.;
RT   "Induced pluripotent stem cell (iPSC) line MLi004A derived from a
RT   patient with recessive dystrophic epidermolysis bullosa (RDEB).";
RL   Stem Cell Res. 55:102463-102463(2021).
//