ID   OGHFUi001-A
AC   CVCL_A8MU
SY   iPS84-1
DR   hPSCreg; OGHFUi001-A
DR   Wikidata; Q108821072
RX   PubMed=34087996;
RX   PubMed=35121198;
CC   From: Obstetrics and Gynecology Hospital of Fudan University; Shanghai; China.
CC   Sequence variation: Mutation; HGNC; 18060; ARX; Simple; p.Arg330Leu (c.989G>T); Zygosity=Hemizygous (PubMed=34087996).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179866; Developmental and epileptic encephalopathy 1
DI   ORDO; Orphanet_1934; Early infantile epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34087996; DOI=10.1016/j.scr.2021.102367;
RA   Jia N., Gong X.-H., Chen J., Yang T., Bao C.-X., Shen J., Xiao X.-R.;
RT   "Generation of an induced pluripotent stem cell line (OGHFUi001-A)
RT   from a type 1 early infantile epileptic encephalopathy with ARX
RT   mutation.";
RL   Stem Cell Res. 53:102367-102367(2021).
//
RX   PubMed=35121198; DOI=10.1016/j.scr.2022.102693;
RA   Gong X.-H., Zheng Z.-Q., Yang T., Zheng H.-Y., Xiao X.-R., Jia N.;
RT   "Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1)
RT   from a type 1 early infantile epileptic encephalopathy (EIEE1)
RT   patient with a hemizygous R330L mutation in the ARX gene.";
RL   Stem Cell Res. 60:102693-102693(2022).
//