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Cellosaurus HAP1 PRKDC (-) PAXX (-) (CVCL_DX08)

[Text version]
Cell line name HAP1 PRKDC (-) PAXX (-)
Synonyms HZGHC005239c011; Double knockout cell line PRKDC 11bp deletion in exon 25 and PAXX 28bp deletion in exon 4
Accession CVCL_DX08
Resource Identification Initiative To cite this cell line use: HAP1 PRKDC (-) PAXX (-) (RRID:CVCL_DX08)
Comments Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:27849; PAXX.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:9413; PRKDC.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Gene fusion; HGNC; HGNC:76; ABL1 + HGNC; 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; 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_TH02 (HAP1 PRKDC (-) 2)
Sex of cell Male
Age at sampling 40Y
Category Cancer cell line
Publications

PubMed=31141305; DOI=10.1002/2211-5463.12681; PMCID=PMC6609761
Meng-Tan Xing, Valentyn Oksenych;
Genetic interaction between DNA repair factors PAXX, XLF, XRCC4 and DNA-PKcs in human cells.
FEBS Open Bio 9:1315-1326(2019)

Cross-references
Cell line collections (Providers) Horizon_Discovery; HZGHC005239c011 - Discontinued
Encyclopedic resources Wikidata; Q127381081
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4