ID   UQACi002-A
AC   CVCL_C0GA
SY   iPSC-EBS1
DR   BioSamples; SAMEA10289463
DR   hPSCreg; UQACi002-A
DR   Wikidata; Q112930528
RX   PubMed=35334406;
CC   From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6416; KRT14; Simple; p.Ile377Thr (c.1130T>C); ClinVar=VCV000066303; Zygosity=Heterozygous (PubMed=35334406).
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   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35334406; DOI=10.1016/j.scr.2022.102750;
RA   Bchetnia M., Martineau L., Racine V., Powell J., McCuaig C., Morin C.,
RA   Duperee A., Gros-Louis F., Laprise C.;
RT   "Generation of two induced pluripotent stem cell lines (UQACi002-A and
RT   UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex
RT   mutations.";
RL   Stem Cell Res. 61:102750-102750(2022).
//