ID   SDQLCHi045-A
AC   CVCL_C1WE
DR   hPSCreg; SDQLCHi045-A
DR   Wikidata; Q114312983
RX   PubMed=36473251;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18040; ARID1B; Simple; p.Gln642Ter (c.1924C>T); Zygosity=Heterozygous (PubMed=36473251).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35321; Coffin-Siris syndrome
DI   ORDO; Orphanet_1465; Coffin-Siris syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36473251; DOI=10.1016/j.scr.2022.102982;
RA   Yang X.-M., Liu C., Zhang H.-Y., Lv Y.-Q., Li Y., Li Z.-L., Liu Y.,
RA   Gai Z.-T.;
RT   "Establishment of an induced pluripotent stem cell (iPSC) line
RT   SDQLCHi045-A from peripheral blood mononuclear cells of a patient
RT   with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene.";
RL   Stem Cell Res. 66:102982-102982(2023).
//