ID   NUIGi052-A
AC   CVCL_YQ75
SY   EP001C1
DR   BioSamples; SAMEA6724082
DR   hPSCreg; NUIGi052-A
DR   Wikidata; Q98128243
RX   PubMed=32540721;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6220; KCNA2; Simple; p.Leu290Arg (c.869T>G); ClinVar=VCV000985630; Zygosity=Heterozygous (PubMed=32540721).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155998; Developmental and epileptic encephalopathy 32
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YQ76 ! NUIGi052-B
OI   CVCL_YQ77 ! NUIGi052-C
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=32540721; DOI=10.1016/j.scr.2020.101853;
RA   Arbini A., Gilmore J., King M.D., Gorman K.M., Krawczyk J.,
RA   McInerney V., O'Brien T., Shen S.-B., Allen N.M.;
RT   "Generation of three induced pluripotent stem cell (iPSC) lines from a
RT   patient with developmental epileptic encephalopathy due to the
RT   pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A,
RT   NUIGi052-B, NUIGi052-C).";
RL   Stem Cell Res. 46:101853-101853(2020).
//