ID   ZZUNEUi019-A
AC   CVCL_A4ZU
DR   hPSCreg; ZZUNEUi019-A
DR   Wikidata; Q107117587
RX   PubMed=33540281;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10259; RORB; Simple; c.94-1G>A; ClinVar=VCV001683646; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33540281).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179067; Susceptibility to idiopathic generalized epilepsy-15
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33540281; DOI=10.1016/j.scr.2021.102177;
RA   Dong W., Shi D.-D., Zhang L.-H., Huang M.-W., Luo Q.;
RT   "Generation of an induced pluripotent stem cell line ZZUNEUi019-A from
RT   a five-year-old Chinese girl with susceptibility to idiopathic
RT   generalized epilepsy-15.";
RL   Stem Cell Res. 51:102177-102177(2021).
//