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Cellosaurus HAP1 FASTKD4&5-dKO (CVCL_C6Y8)

[Text version]
Cell line name HAP1 FASTKD4&5-dKO
Accession CVCL_C6Y8
Resource Identification Initiative To cite this cell line use: HAP1 FASTKD4&5-dKO (RRID:CVCL_C6Y8)
Comments Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; 17443; TBRG4.
Knockout cell: Method=CRISPR/Cas9; HGNC; 25790; FASTKD5.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Gene fusion; HGNC; 76; ABL1 + HGNC; 1014; BCR; Name(s)=BCR-ABL1, BCR-ABL; Note=BCR exon 13 fused to ABL1 exon 2 (b2a2 transcript) (from parent cell line).
  • Mutation; HGNC; 11998; TP53; Simple; p.Ser215Gly (c.643A>G); ClinVar=VCV000265337; Zygosity=Hemizygous (from parent cell line).
Disease Chronic myelogenous leukemia, BCR-ABL1 positive (NCIt: C3174)
Chronic myeloid leukemia (ORDO: Orphanet_521)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y019 (HAP1)
Sex of cell Male
Age at sampling 40Y
Category Cancer cell line
Publications

PubMed=34748562; DOI=10.1371/journal.pgen.1009873; PMCID=PMC8601606
Ohkubo A., Van Haute L., Rudler D.L., Stentenbach M., Steiner F.A., Rackham O., Minczuk M., Filipovska A., Martinou J.-C.
The FASTK family proteins fine-tune mitochondrial RNA processing.
PLoS Genet. 17:E1009873-E1009873(2021)

Cross-references
Encyclopedic resources Wikidata; Q117704468
Entry history
Entry creation21-Mar-2023
Last entry update02-May-2024
Version number3