ID   SDQLCHi060-A
AC   CVCL_C9JK
DR   hPSCreg; SDQLCHi060-A
DR   Wikidata; Q123033469
RX   PubMed=37948839;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 14262; AUTS2; Simple; p.Gln496Ter (c.1486C>T); Zygosity=Heterozygous (PubMed=37948839).
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   1Y9M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37948839; DOI=10.1016/j.scr.2023.103242;
RA   Gao C.-L., Liu Y., Liu N., Li Z.-L., Yang X.-M., Yang Y.-N., Xi Y.,
RA   Tian J.-J., Gai Z.-T.;
RT   "Establishment of human induced pluripotent stem cell line
RT   (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a
RT   heterozygous mutation in AUTS2 gene.";
RL   Stem Cell Res. 73:103242-103242(2023).
//