ID   EH21
AC   CVCL_ZE31
DR   Wikidata; Q98125959
RX   PubMed=20977447;
CC   Sequence variation: Mutation; HGNC; HGNC:6413; KRT10; Simple; p.Arg156Gly (c.466C>G); ClinVar=VCV000066969; Zygosity=Heterozygous (PubMed=20977447).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03126; Human papillomavirus type 16 protein E6.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C62569; Epidermolytic ichthyosis
DI   ORDO; Orphanet_312; Autosomal dominant epidermolytic ichthyosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 10
//
RX   PubMed=20977447; DOI=10.1111/j.1365-2133.2010.10092.x;
RA   Chamcheu J.C., Pihl-Lundin I., Eteti Mouyobo C., Gester T., Virtanen M.,
RA   Moustakas A., Navsaria H.A., Vahlquist A., Torma H.;
RT   "Immortalized keratinocytes derived from patients with epidermolytic
RT   ichthyosis reproduce the disease phenotype: a useful in vitro model
RT   for testing new treatments.";
RL   Br. J. Dermatol. 164:263-272(2011).
//