ID   SDQLCHi012-A
AC   CVCL_XV11
DR   hPSCreg; SDQLCHi012-A
DR   Wikidata; Q98129471
RX   PubMed=31648101;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:5964; IL10RA; Simple; c.188+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=31648101).
CC   Sequence variation: Mutation; HGNC; HGNC:5964; IL10RA; Simple; p.Arg101Trp (c.301C>T); ClinVar=VCV000039432; Zygosity=Heterozygous (PubMed=31648101).
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   Male
AG   11M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31648101; DOI=10.1016/j.scr.2019.101577;
RA   Ma, Yan-Yan
RA   Zhang, Hai-Yan
RA   Zhang, Shi-Song
RA   Dong, Rui
RA   Yang, Xiao-Meng
RA   Li, Yue
RA   Guan, Jing-Yun
RA   Gai, Zhong-Tao
RA   Liu, Yi
RT   "An integration-free iPSC line (SDQLCHi012-A) derived from a patient
RT   with inflammatory bowel disease-28 carrying compound heterozygote
RT   mutations in IL10RA gene.";
RL   Stem Cell Res. 41:101577-101577(2019).
//