ID   NUIGi063-B
SY   EP2003 C3
DR   BioSamples; SAMEA112150815
DR   hPSCreg; NUIGi063-B
DR   Wikidata; Q117704754
RX   PubMed=37071954;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6296; KCNQ2; Simple; p.Arg213Gln (c.638C>T); ClinVar=VCV000039760; Zygosity=Heterozygous (PubMed=37071954).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192087; Developmental and epileptic encephalopathy 7
DI   ORDO; Orphanet_439218; KCNQ2-related epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6S5 ! NUIGi063-A
OI   CVCL_C6S7 ! NUIGi063-C
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
RX   PubMed=37071954; DOI=10.1016/j.scr.2023.103093;
RA   Stewart R., Gadoud C., Krawczyk J., McInerney V., O'Brien T.,
RA   Shen S.-B., Allen N.M.;
RT   "Generation of three induced pluripotent stem cell lines from a
RT   patient with KCNQ2 developmental and epileptic encephalopathy as a
RT   result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A,
RT   NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A,
RT   NUIGi064-B, NUIGi064-C).";
RL   Stem Cell Res. 69:103093-103093(2023).