Cellosaurus cell line SDQLCHi040-A (CVCL

Cross-references
Cell line name	SDQLCHi040-A
Accession	CVCL_A4XU
Resource Identification Initiative	To cite this cell line use: SDQLCHi040-A (RRID:CVCL_A4XU)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5964; IL10RA; Simple; p.Arg101Trp (c.301C>T); ClinVar=VCV000039432; Zygosity=Homozygous (PubMed=34530396).
Disease	Inflammatory bowel disease 28 (NCIt: C164676) Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome (ORDO: Orphanet_238569)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1Y4M
Category	Induced pluripotent stem cell
Publications	PubMed=34530396; DOI=10.1016/j.scr.2021.102533 Ning Liu, Xiao-Meng Yang, Lu Yang, Jun-Jie Xu, Rui Dong, Yue Li, Zi-Long Li, Hai-Yan Zhang, Min Gao, Yu-Qiang Lv, Yi Liu, Zhong-Tao Gai; Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene. Stem Cell Res. 56:102533-102533(2021)
Cell line databases/resources	hPSCreg; SDQLCHi040-A
Encyclopedic resources	Wikidata; Q107116894
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5