Cellosaurus cell line MLi002-A (CVCL

Cross-references
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; 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 Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Marija Rogar, Sandra Ropret, Hans Torma, Dusko Ilic, Mirjana Liovic; 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)
Cell line databases/resources	hPSCreg; MLi002-A
Biological sample resources	BioSamples; SAMEA5340004
Encyclopedic resources	Wikidata; Q95990117
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9