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Cellosaurus UKAi001-C-1 (CVCL_A5GS)

[Text version]
Cell line name UKAi001-C-1
Synonyms IRF8-/- iPS3; hsc3_hiPS_40_16_6; UKAi001-F
Accession CVCL_A5GS
Resource Identification Initiative To cite this cell line use: UKAi001-C-1 (RRID:CVCL_A5GS)
Comments From: Universitatsklinikum Aachen; Aachen; Germany.
Knockout cell: Method=CRISPR/Cas9; HGNC; 5358; IRF8.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Mutation; HGNC; 6407; KRAS; Simple; p.Ala146Thr (c.436G>A); ClinVar=VCV000197243; Zygosity=Heterozygous (hPSCreg=UKAi001-C-1).
Disease Systemic mastocytosis (NCIt: C9235)
Systemic mastocytosis (ORDO: Orphanet_2467)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A5GP (UKAi001-C)
Sex of cell Male
Age at sampling 45-49Y
Category Induced pluripotent stem cell
Publications

PubMed=28090699; DOI=10.1002/stem.2565
Sontag S., Forster M., Qin J., Wanek P., Mitzka S., Schuler H.M., Koschmieder S., Rose-John S., Sere K., Zenke M.
Modelling IRF8 deficient human hematopoiesis and dendritic cell development with engineered iPS cells.
Stem Cells 35:898-908(2017)

Cross-references
Cell line databases/resources hPSCreg; UKAi001-C-1
Biological sample resources BioSamples; SAMEA8152172
Encyclopedic resources Wikidata; Q107117210
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4