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Cellosaurus EH11 (CVCL_ZE30)

[Text version]
Cell line name EH11
Accession CVCL_ZE30
Resource Identification Initiative To cite this cell line use: EH11 (RRID:CVCL_ZE30)
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:6412; KRT1; Simple; p.Val176_Lys197del (c.591+1G>C); ClinVar=VCV000066656; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=20977447).
Disease Epidermolytic ichthyosis (NCIt: C62569)
Autosomal dominant epidermolytic ichthyosis (ORDO: Orphanet_312)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Transformed cell line
Publications

PubMed=20977447; DOI=10.1111/j.1365-2133.2010.10092.x
Chamcheu J.C., Pihl-Lundin I., Eteti Mouyobo C., Gester T., Virtanen M., Moustakas A., Navsaria H.A., Vahlquist A., Torma H.
Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments.
Br. J. Dermatol. 164:263-272(2011)

Cross-references
Encyclopedic resources Wikidata; Q98125957
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number11