ID   SDQLCHi072-A
AC   CVCL_D4ZV
DR   BioSamples; SAMEA115879341
DR   hPSCreg; SDQLCHi072-A
DR   Wikidata; Q127384281
RX   PubMed=39276529;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:14262; AUTS2; Simple; p.Ala1020Val (c.3059C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=39276529).
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   7M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=39276529; DOI=10.1016/j.scr.2024.103554;
RA   Li Z.-L., Li Z.-B., Lv Y.-Q., Gao M., Liu N., Gai Z.-T., Liu Q.-J.;
RT   "Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a
RT   patient suffered from AUTS2 syndrome.";
RL   Stem Cell Res. 81:103554-103554(2024).
//