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Cellosaurus MLi004-A (CVCL_A8HI)

[Text version]
Cell line name MLi004-A
Synonyms iMS
Accession CVCL_A8HI
Resource Identification Initiative To cite this cell line use: MLi004-A (RRID:CVCL_A8HI)
Comments From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
Population: Caucasian.
Omics: Array-based CGH.
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.Arg682Ter (c.2044C>T); ClinVar=VCV001047976; Zygosity=Heterozygous (PubMed=34284275).
  • 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).
Disease Epidermolysis bullosa dystrophica (NCIt: C84691)
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (ORDO: Orphanet_79408)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=34284275; DOI=10.1016/j.scr.2021.102463
Ropret S., Jeriha J., Sorcan T., Rogar M., Zemljic Jokhadar S., McGrath J.A., Ilic D., Liovic M.
Induced pluripotent stem cell (iPSC) line MLi004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB).
Stem Cell Res. 55:102463-102463(2021)

Cross-references
Cell line databases/resources hPSCreg; MLi004-A
Biological sample resources BioSamples; SAMEA8868434
Encyclopedic resources Wikidata; Q107116382
Entry history
Entry creation20-May-2021
Last entry update30-Jan-2024
Version number6