ID   SDQLCHi044-A
AC   CVCL_C1WD
DR   hPSCreg; SDQLCHi044-A
DR   Wikidata; Q114312982
RX   PubMed=36183676;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:11497; SYNGAP1; Simple; p.Arg687Ter (c.2059C>T); ClinVar=VCV000411584; Zygosity=Heterozygous (PubMed=36183676).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178414; Mental retardation, autosomal dominant 5
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y6M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=36183676; DOI=10.1016/j.scr.2022.102922;
RA   Wang Y.-X., Lv Y.-Q., Yang X.-M., Li Y., Li Z.-L., Gao Z.-F., Gai Z.-T.,
RA   Liu Y.;
RT   "Generation of an induced pluripotent stem cell line (SDQLCHi044-A)
RT   from a patient with autosomal dominant mental retardation type 5
RT   harboring heterozygous mutation in SYNGAP1 gene.";
RL   Stem Cell Res. 64:102922-102922(2022).
//