ID   UQACi006-A
AC   CVCL_C0G9
SY   iPSC-EBS26
DR   BioSamples; SAMEA10379663
DR   hPSCreg; UQACi006-A
DR   Wikidata; Q112930532
RX   PubMed=35247839;
CC   From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6442; KRT5; Simple; p.Leu203Pro (c.608T>C); Zygosity=Heterozygous (PubMed=35247839).
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   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35247839; DOI=10.1016/j.scr.2022.102726;
RA   Bchetnia, Mbarka
RA   Martineau, Laurie
RA   Racine, Veronique
RA   Powell, Julie
RA   McCuaig, Catherine
RA   Morin, Charles
RA   Duperee, Audrey
RA   Gros-Louis, Francois
RA   Laprise, Catherine
RT   "Generation of three induced pluripotent stem cell lines (UQACi003-A,
RT   UQACi004-A, and UQACi006-A) from three patients with KRT5
RT   epidermolysis bullosa simplex mutations.";
RL   Stem Cell Res. 60:102726-102726(2022).
//