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Cellosaurus iMSMD-het.4 (CVCL_A4UL)

[Text version]
Cell line name iMSMD-het.4
Accession CVCL_A4UL
Resource Identification Initiative To cite this cell line use: iMSMD-het.4 (RRID:CVCL_A4UL)
Comments Donor information: While obtained from a patient suffering from Mendelian susceptibility to mycobacterial diseases, this iPSC originates from the sister of this patient who was the donor for a hematopoietic stem cell transplantation.
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).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4UM ! iMSMD-het.9
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
Cell line databases/resources SKIP; SKIP005504
Encyclopedic resources Wikidata; Q107115454
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6