Cellosaurus cell line MLi005-A (CVCL

Cross-references
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; HGNC:2214; COL7A1; Simple; p.Gly2043Arg (c.6127G>A); ClinVar=VCV000017438; Zygosity=Heterozygous (PubMed=38271763).
Disease	Epidermolysis bullosa dystrophica, autosomal dominant (NCIt: C205633) 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)
Cell line databases/resources	hPSCreg; MLi005-A
Biological sample resources	BioSamples; SAMEA114469820
Encyclopedic resources	Wikidata; Q127382831
Entry history
Entry creation	30-Jan-2024
Last entry update	19-Dec-2024
Version number	3