Cellosaurus cell line EB12 (CVCL

Cellosaurus EB12 (CVCL_ZE29)

Cross-references
Cell line name	EB12
Accession	CVCL_ZE29
Resource Identification Initiative	To cite this cell line use: EB12 (RRID:CVCL_ZE29)
Comments	Genetic integration: Method=Transduction; Gene=UniProtKB; P03126; Human papillomavirus type 16 protein E6. Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7. Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo. Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16). 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=21490615).
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_UJ78 ! MLi002-A
Sex of cell	Female
Age at sampling	38Y
Category	Transformed cell line
Publications	PubMed=21490615; DOI=10.1038/jid.2011.93 Chamcheu J.C., Navsaria H.A., Pihl-Lundin I., Liovic M., Vahlquist A., Torma H. Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. J. Invest. Dermatol. 131:1684-1691(2011)
Encyclopedic resources	Wikidata; Q98125933
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	10