ID   MLi005-A
AC   CVCL_D4WS
SY   iDDEB
DR   BioSamples; SAMEA114469820
DR   hPSCreg; MLi005-A
DR   Wikidata; Q127382831
RX   PubMed=38271763;
CC   From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Gly2043Arg (c.6127G>A); ClinVar=VCV000017438; Zygosity=Heterozygous (PubMed=38271763).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C205633; Epidermolysis bullosa dystrophica, autosomal dominant
DI   ORDO; Orphanet_231568; Autosomal dominant generalized dystrophic epidermolysis bullosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=38271763; DOI=10.1016/j.scr.2024.103306;
RA   Ropret S., Khurana P., Fabcic T., Cvetkovska J., Trobec A.,
RA   Jokhadar S.Z., Ilic D., McGrath J.A., Guttmann-Gruber C., Liovic M.;
RT   "Induced pluripotent stem cell (iPSC) line MLi005-A derived from a
RT   patient with dominant dystrophic epidermolysis bullosa (DDEB).";
RL   Stem Cell Res. 75:103306-103306(2024).
//