ID   SDQLCHi040-A
AC   CVCL_A4XU
DR   hPSCreg; SDQLCHi040-A
DR   Wikidata; Q107116894
RX   PubMed=34530396;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 5964; IL10RA; Simple; p.Arg101Trp (c.301C>T); ClinVar=VCV000039432; Zygosity=Homozygous (PubMed=34530396).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C164676; Inflammatory bowel disease 28
DI   ORDO; Orphanet_238569; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y4M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34530396; DOI=10.1016/j.scr.2021.102533;
RA   Liu N., Yang X.-M., Yang L., Xu J.-J., Dong R., Li Y., Li Z.-L.,
RA   Zhang H.-Y., Gao M., Lv Y.-Q., Liu Y., Gai Z.-T.;
RT   "Establishment of human induced pluripotent stem cell line
RT   (SDQLCHi040-A) from a patient with infantile-onset inflammatory bowel
RT   disease carrying a homozygous mutation in IL10RA gene.";
RL   Stem Cell Res. 56:102533-102533(2021).
//