ID   MLi002-A
AC   CVCL_UJ78
SY   iEBS
DR   BioSamples; SAMEA5340004
DR   hPSCreg; MLi002-A
DR   Wikidata; Q95990117
RX   PubMed=30933721;
CC   From: Faculty of Medicine, University of Ljubljana; Ljubljana; Slovenia.
CC   Sequence variation: Heterozygous for KRT5 p.Glu475Gly (c.1424A>G) (ClinVar=VCV000014638) (PubMed=30933721).
CC   Derived from sampling site: Skin; epidermis; keratinocyte.
DI   NCIt; C84692; Epidermolysis bullosa simplex
DI   ORDO; Orphanet_79396; Epidermolysis bullosa simplex, generalized severe
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_ZE28 ! EB11
OI   CVCL_ZE29 ! EB12
SX   Female
AG   >38Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 02-07-20; Version: 4
//
RX   PubMed=30933721; DOI=10.1016/j.scr.2019.101424;
RA   Kolundzic N., Khurana P., Hobbs C., Rogar M., Ropret S., Torma H.,
RA   Ilic D., Liovic M.;
RT   "Induced pluripotent stem cell (iPSC) line from an epidermolysis
RT   bullosa simplex patient heterozygous for keratin 5 E475G mutation and
RT   with the Dowling Meara phenotype.";
RL   Stem Cell Res. 37:101424-101424(2019).
//