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 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)
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