ID   UQACi001-A
AC   CVCL_YC63
SY   iPSC-EBS21
DR   BioSamples; SAMEA6114044
DR   hPSCreg; UQACi001-A
DR   Wikidata; Q98134343
RX   PubMed=32179493;
CC   From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada.
CC   Sequence variation: Mutation; HGNC; 6416; KRT14; Simple; p.Arg125Ser (c.373C>A); ClinVar=VCV001338973; Zygosity=Heterozygous (PubMed=32179493).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84692; Epidermolysis bullosa simplex
DI   ORDO; Orphanet_79396; Epidermolysis bullosa simplex, generalized severe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32179493; DOI=10.1016/j.scr.2020.101748;
RA   Bchetnia M., Martineau L., Racine V., Powell J., McCuaig C.,
RA   Puymirat J., Laprise C.;
RT   "Generation of a human induced pluripotent stem cell line (UQACi001-A)
RT   from a severe epidermolysis bullosa simplex patient with the
RT   heterozygous mutation p.R125S in the KRT14 gene.";
RL   Stem Cell Res. 44:101748-101748(2020).
//