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Cellosaurus MLi005-A (CVCL_D4WS)

[Text version]
Cell line name MLi005-A
Synonyms iDDEB
Accession CVCL_D4WS
Resource Identification Initiative To cite this cell line use: MLi005-A (RRID:CVCL_D4WS)
Comments From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2214; COL7A1; Simple; p.Gly2043Arg (c.6127G>A); ClinVar=VCV000017438; Zygosity=Heterozygous (PubMed=38271763).
Disease Epidermolysis bullosa dystrophica (NCIt: C84691)
Autosomal dominant generalized dystrophic epidermolysis bullosa (ORDO: Orphanet_231568)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=38271763; DOI=10.1016/j.scr.2024.103306
Ropret S., Khurana P., Fabcic T., Cvetkovska J., Trobec A., Jokhadar S.Z., Ilic D., McGrath J.A., Guttmann-Gruber C., Liovic M.
Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
Stem Cell Res. 75:103306-103306(2024)

Cross-references
Cell line databases/resources hPSCreg; MLi005-A
Biological sample resources BioSamples; SAMEA114469820
Entry history
Entry creation30-Jan-2024
Last entry update30-Jan-2024
Version number1