ID   UKAi001-C-1
AC   CVCL_A5GS
SY   IRF8-/- iPS3; hsc3_hiPS_40_16_6; UKAi001-F
DR   BioSamples; SAMEA8152172
DR   hPSCreg; UKAi001-C-1
DR   Wikidata; Q107117210
RX   PubMed=28090699;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 5358; IRF8.
CC   Sequence variation: Mutation; HGNC; 6407; KRAS; Simple; p.Ala146Thr (c.436G>A); ClinVar=VCV000197243; Zygosity=Heterozygous (hPSCreg=UKAi001-C-1).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C9235; Systemic mastocytosis
DI   ORDO; Orphanet_2467; Systemic mastocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A5GP ! UKAi001-C
SX   Male
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=28090699; DOI=10.1002/stem.2565;
RA   Sontag S., Forster M., Qin J., Wanek P., Mitzka S., Schuler H.M.,
RA   Koschmieder S., Rose-John S., Sere K., Zenke M.;
RT   "Modelling IRF8 deficient human hematopoiesis and dendritic cell
RT   development with engineered iPS cells.";
RL   Stem Cells 35:898-908(2017).
//