ID   KUi013-A-1
AC   CVCL_D6PG
SY   SK GC
DR   BioSamples; SAMEA114440046
DR   hPSCreg; KUi013-A-1
RX   PubMed=38458029;
CC   From: University of Copenhagen; Copenhagen; Denmark.
CC   Sequence variation: Mutation; HGNC; 4084; GABRD; Simple_corrected; p.Thr291Ile (c.872C>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38458029).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206526; Susceptibility to idiopathic generalized epilepsy-10
DI   ORDO; Orphanet_36387; Generalized epilepsy with febrile seizures-plus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D6PF ! KUi013-A
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38458029; DOI=10.1016/j.scr.2024.103372;
RA   Kamand M., Taleb R., Wathikthinnakon M., Mohamed F.A.,
RA   Ghazanfari S.P., Konstantinov D., Hald J.L., Holst B.,
RA   Brasch-Andersen C., Moller R.S., Lemke J.R., Krey I., Freude K.K.,
RA   Chandrasekaran A.;
RT   "Generation of two patient specific GABRD variants and their isogenic
RT   controls for modeling epilepsy.";
RL   Stem Cell Res. 76:103372-103372(2024).
//