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Cellosaurus SDQLCHi012-A (CVCL_XV11)

[Text version]
Cell line name SDQLCHi012-A
Accession CVCL_XV11
Resource Identification Initiative To cite this cell line use: SDQLCHi012-A (RRID:CVCL_XV11)
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; c.188+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=31648101).
  • Mutation; HGNC; 5964; IL10RA; Simple; p.Arg101Trp (c.301C>T); ClinVar=VCV000039432; Zygosity=Heterozygous (PubMed=31648101).
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 Male
Age at sampling 11M
Category Induced pluripotent stem cell
Publications

PubMed=31648101; DOI=10.1016/j.scr.2019.101577
Ma Y.-Y., Zhang H.-Y., Zhang S.-S., Dong R., Yang X.-M., Li Y., Guan J.-Y., Gai Z.-T., Liu Y.
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease-28 carrying compound heterozygote mutations in IL10RA gene.
Stem Cell Res. 41:101577-101577(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi012-A
Encyclopedic resources Wikidata; Q98129471
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7