ID   GWCMCi006-A
AC   CVCL_D0F4
SY   GWCMCi-GRIN1
DR   BioSamples; SAMEA114293122
DR   hPSCreg; GWCMCi006-A
DR   Wikidata; Q123031380
RX   PubMed=38452705;
CC   From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 4584; GRIN1; Simple; p.Asp130Gly (c.389A>G); Zygosity=Heterozygous; Note=De novo mutation (PubMed=38452705).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206518; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38452705; DOI=10.1016/j.scr.2024.103371;
RA   Shi Z., Liu H., Feng F.-M., Huang Z.-F., Chen W.-X.;
RT   "Generation of an induced pluripotent stem cell line GWCMCi006-A from
RT   a patient with autosomal dominant neurodevelopmental disorder with or
RT   without hyperkinetic movements and seizures harboring GRIN1 c.389A >
RT   G mutation.";
RL   Stem Cell Res. 76:103371-103371(2024).
//