ID   iMSMD-cohet.17
AC   CVCL_A4UK
DR   Wikidata; Q107115452
RX   PubMed=29249666;
CC   Sequence variation: Mutation; HGNC; HGNC:5439; IFNGR1; Simple; c.373+1G>T (p.Val68Lysfs*6); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29249666).
CC   Sequence variation: Mutation; HGNC; HGNC:5439; IFNGR1; Simple; p.Ile187fs (c.561_564delACTC) (c.561del4); Zygosity=Heterozygous (PubMed=29249666).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176806; Interferon gamma receptor 1 deficiency
DI   ORDO; Orphanet_99898; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4UI ! iMSMD-cohet.5
OI   CVCL_A4UJ ! iMSMD-cohet.7
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=29249666; DOI=10.1016/j.stemcr.2017.11.011; PMCID=PMC5768914;
RA   Neehus A.-L., Lam J., Haake K., Merkert S., Schmidt N., Mucci A.,
RA   Ackermann M., Schubert M., Happle C., Kuhnel M.P., Blank P.,
RA   Philipp F., Goethe R., Jonigk D., Martin U., Kalinke U., Baumann U.,
RA   Schambach A., Roesler J., Lachmann N.;
RT   "Impaired IFNgamma-signaling and mycobacterial clearance in
RT   IFNgammaR1-deficient human iPSC-derived macrophages.";
RL   Stem Cell Reports 10:7-16(2018).
//