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Cellosaurus SDQLCHi040-A (CVCL_A4XU)

[Text version]
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; 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
Liu N., Yang X.-M., Yang L., Xu J.-J., Dong R., Li Y., Li Z.-L., Zhang H.-Y., Gao M., Lv Y.-Q., Liu Y., Gai Z.-T.
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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi040-A
Encyclopedic resources Wikidata; Q107116894
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4