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Cellosaurus MLi002-A (CVCL_UJ78)

[Text version]
Cell line name MLi002-A
Synonyms iEBS
Accession CVCL_UJ78
Resource Identification Initiative To cite this cell line use: MLi002-A (RRID:CVCL_UJ78)
Comments From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations
  • Mutation; HGNC; 6442; KRT5; Simple; p.Glu475Gly (c.1424A>G); ClinVar=VCV000014638; Zygosity=Heterozygous (PubMed=30933721).
Disease Epidermolysis bullosa simplex (NCIt: C84692)
Epidermolysis bullosa simplex, generalized severe (ORDO: Orphanet_79396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZE28 ! EB11
CVCL_ZE29 ! EB12
Sex of cell Female
Age at sampling >38Y
Category Induced pluripotent stem cell
Publications

PubMed=30933721; DOI=10.1016/j.scr.2019.101424
Kolundzic N., Khurana P., Hobbs C., Rogar M., Ropret S., Torma H., Ilic D., Liovic M.
Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype.
Stem Cell Res. 37:101424-101424(2019)

Cross-references
Cell line databases/resources hPSCreg; MLi002-A
Biological sample resources BioSamples; SAMEA5340004
Encyclopedic resources Wikidata; Q95990117
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8