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Cellosaurus HAP1 KMT2D (-) (CVCL_SV04)

[Text version]
Cell line name HAP1 KMT2D (-)
Synonyms HZGHC001114c006; KMT2D knockout cell line 5bp deletion
Accession CVCL_SV04
Resource Identification Initiative To cite this cell line use: HAP1 KMT2D (-) (RRID:CVCL_SV04)
Comments Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:7133; KMT2D.
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_Y019 (HAP1)
Sex of cell Male
Age at sampling 40Y
Category Cancer cell line
Publications

PubMed=31659326; DOI=10.1038/s41592-019-0614-5
Smits A.H., Ziebell F., Joberty G., Zinn N., Mueller W.F., Clauder-Munster S., Eberhard D., Falth Savitski M., Grandi P., Jakob P., Michon A.-M., Sun H., Tessmer K., Burckstummer T., Bantscheff M., Steinmetz L.M., Drewes G., Huber W.
Biological plasticity rescues target activity in CRISPR knock outs.
Nat. Methods 16:1087-1093(2019)

Cross-references
Cell line collections (Providers) Horizon_Discovery; HZGHC001114c006
Cell line databases/resources cancercelllines; CVCL_SV04
Encyclopedic resources Wikidata; Q54876013
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number12