Cellosaurus logo
expasy logo

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
Anna-Lena Neehus, Jenny Lam, Kathrin Haake, Sylvia Merkert, Nico Schmidt, Adele Mucci, Mania Ackermann, Madline Schubert, Christine Happle, Mark Philipp Kuhnel, Patrick Blank ...Show all 20 authors... , Friederike Philipp, Ralph Goethe, Danny Jonigk, Ulrich Martin, Ulrich Kalinke, Ulrich Baumann, Axel Schambach, Joachim Roesler, Nico Lachmann; Show fewer authors
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