ID   NUIGi059-A
AC   CVCL_C6RT
SY   EP2001 C4
DR   BioSamples; SAMEA111454677
DR   hPSCreg; NUIGi059-A
DR   Wikidata; Q117704741
RX   PubMed=37659345;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6296; KCNQ2; Simple; p.Ala294Val (c.881C>T); ClinVar=VCV000205886; Zygosity=Heterozygous (PubMed=37659345).
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_C6RU ! NUIGi059-B
OI   CVCL_C6RV ! NUIGi059-C
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=37659345; DOI=10.1016/j.scr.2023.103191;
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.881C > T; p.Ala294Val (NUIGi059-A,
RT   NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A,
RT   NUIGi060-B, NUIGi060-C).";
RL   Stem Cell Res. 71:103191-103191(2023).
//