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Cellosaurus iMSMD-cohet.17 (CVCL_A4UK)

[Text version]
Cell line name iMSMD-cohet.17
Accession CVCL_A4UK
Resource Identification Initiative To cite this cell line use: iMSMD-cohet.17 (RRID:CVCL_A4UK)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5439; IFNGR1; Simple; c.373+1G>T (p.Val68Lysfs*6); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29249666).
  • Mutation; HGNC; HGNC:5439; IFNGR1; Simple; p.Ile187fs (c.561_564delACTC) (c.561del4); Zygosity=Heterozygous (PubMed=29249666).
Disease Interferon gamma receptor 1 deficiency (NCIt: C176806)
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency (ORDO: Orphanet_99898)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4UI ! iMSMD-cohet.5
CVCL_A4UJ ! iMSMD-cohet.7
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=29249666; DOI=10.1016/j.stemcr.2017.11.011; PMCID=PMC5768914
Neehus A.-L., Lam J., Haake K., Merkert S., Schmidt N., Mucci A., Ackermann M., Schubert M., Happle C., Kuhnel M.P., Blank P., Philipp F., Goethe R., Jonigk D., Martin U., Kalinke U., Baumann U., Schambach A., Roesler J., Lachmann N.
Impaired IFNgamma-signaling and mycobacterial clearance in IFNgammaR1-deficient human iPSC-derived macrophages.
Stem Cell Reports 10:7-16(2018)

Cross-references
Encyclopedic resources Wikidata; Q107115452
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5