ID   iMSMD-het.4
AC   CVCL_A4UL
DR   SKIP; SKIP005504
DR   Wikidata; Q107115454
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   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.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4UM ! iMSMD-het.9
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
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).
//