ID   EB11
AC   CVCL_ZE28
DR   Wikidata; Q98125932
RX   PubMed=21490615;
RX   PubMed=28765827;
CC   Sequence variation: Mutation; HGNC; 6442; KRT5; Simple; p.Glu475Gly (c.1424A>G); ClinVar=VCV000014638; Zygosity=Heterozygous (PubMed=21490615).
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; C84692; Epidermolysis bullosa simplex
DI   ORDO; Orphanet_79396; Epidermolysis bullosa simplex, generalized severe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZE29 ! EB12
OI   CVCL_UJ78 ! MLi002-A
SX   Female
AG   38Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 9
//
RX   PubMed=21490615; DOI=10.1038/jid.2011.93;
RA   Chamcheu J.C., Navsaria H.A., Pihl-Lundin I., Liovic M., Vahlquist A.,
RA   Torma H.;
RT   "Chemical chaperones protect epidermolysis bullosa simplex
RT   keratinocytes from heat stress-induced keratin aggregation:
RT   involvement of heat shock proteins and MAP kinases.";
RL   J. Invest. Dermatol. 131:1684-1691(2011).
//
RX   PubMed=28765827; DOI=10.1016/j.omtm.2017.06.008; PMCID=PMC5527154;
RA   Aushev M., Koller U., Mussolino C., Cathomen T., Reichelt J.;
RT   "Traceless targeting and isolation of gene-edited immortalized
RT   keratinocytes from epidermolysis bullosa simplex patients.";
RL   Mol. Ther. Methods Clin. Dev. 6:112-123(2017).
//