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Cellosaurus UKAi001-A-1 (CVCL_A5GQ)

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Cell line name UKAi001-A-1
Synonyms IRF8-/- iPS1; hsc3_hiPS_11_4; UKAi001-D
Accession CVCL_A5GQ
Resource Identification Initiative To cite this cell line use: UKAi001-A-1 (RRID:CVCL_A5GQ)
Comments From: Universitatsklinikum Aachen; Aachen; Germany.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:5358; IRF8.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Mutation; HGNC; HGNC:6407; KRAS; Simple; p.Ala146Thr (c.436G>A); ClinVar=VCV000197243; Zygosity=Heterozygous (hPSCreg=UKAi001-A-1).
Disease Systemic mastocytosis (NCIt: C9235)
Systemic mastocytosis (ORDO: Orphanet_2467)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A5GM (UKAi001-A)
Sex of cell Male
Age at sampling 45-49Y
Category Induced pluripotent stem cell
Publications

PubMed=28090699; DOI=10.1002/stem.2565
Stephanie Sontag, Malrun Forster, Jie Qin, Paul Wanek, Saskia Mitzka, Herdit M. Schuler, Steffen Koschmieder, Stefan Rose-John, Kristin Sere, Martin Zenke;
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-A-1
Biological sample resources BioSamples; SAMEA8152169
Encyclopedic resources Wikidata; Q107117206
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5