ID   SDQLCHi053-A
AC   CVCL_C8DX
DR   hPSCreg; SDQLCHi053-A
DR   Wikidata; Q123033460
RX   PubMed=37385133;
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.Arg143Ter (c.427C>T); ClinVar=VCV000060716; Zygosity=Heterozygous (PubMed=37385133).
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   Female
AG   2Y10M
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=37385133; DOI=10.1016/j.scr.2023.103132;
RA   Wang Y.-X., Yang X.-M., Zhang H.-Y., Liu N., Liu Y., Gai Z.-T., Liu Y.,
RA   Lv Y.-Q.;
RT   "Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a
RT   young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1
RT   gene.";
RL   Stem Cell Res. 71:103132-103132(2023).
//