ID   SYSUi003-A
SY   SYSUi-003-A; GRIN2A+/L611Q iPSC
DR   hPSCreg; SYSUi003-A
DR   SKIP; SKIP005643
DR   Wikidata; Q98132952
RX   PubMed=32036246;
CC   From: Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 4585; GRIN2A; Simple; p.Leu611Gln (c.1832A>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=32036246).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C168598; Epilepsy, focal, with speech disorder and with or without mental retardation
DI   ORDO; Orphanet_289266; Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 20-05-21; Version: 5
RX   PubMed=32036246; DOI=10.1016/j.scr.2020.101706;
RA   Sun C.-B., Yang M.-Z., Qin F.-Y., Guo R.-R., Liang S.-Q., Hu H.;
RT   "Generation of an induced pluripotent stem cell line SYSUi-003-A from
RT   a child with epilepsy carrying GRIN2A mutation.";
RL   Stem Cell Res. 43:101706-101706(2020).