ID   SDQLCHi051-A
AC   CVCL_C8DW
DR   hPSCreg; SDQLCHi051-A
DR   Wikidata; Q123033458
RX   PubMed=37229974;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 20153; CHD8; Simple; p.Ile1292Met (c.3876T>G); Zygosity=Heterozygous (PubMed=37229974).
CC   Sequence variation: Mutation; HGNC; 20153; CHD8; Simple; p.Arg2243His (c.6728G>A); Zygosity=Heterozygous (PubMed=37229974).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37229974; DOI=10.1016/j.scr.2023.103114;
RA   Fan Y.-X., Li Y., Yang X.-M., Zhang H.-Y., Wang B., Guan J.-Y.,
RA   Gao J.-N., Ma X., Liu Y.;
RT   "Generation and characterization of PBMCs-derived human induced
RT   pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism
RT   spectrum disorder patient with compound CHD8 gene mutations.";
RL   Stem Cell Res. 69:103114-103114(2023).
//