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Cellosaurus eHAP E9 (CVCL_5J33)

[Text version]
Cell line name eHAP E9
Synonyms eHAPE9; eHAP; Engineered-HAPloid clone E9
Accession CVCL_5J33
Resource Identification Initiative To cite this cell line use: eHAP E9 (RRID:CVCL_5J33)
Comments Group: Haploid karyotype cell line.
Omics: Genomics; Whole genome sequencing.
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=25373145; DOI=10.1101/gr.177220.114; PMCID=PMC4248322
Essletzbichler P., Konopka T., Santoro F., Chen D., Gapp B.V., Kralovics R., Brummelkamp T.R., Nijman S.M.B., Burckstummer T.
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line.
Genome Res. 24:2059-2065(2014)

PubMed=31962144; DOI=10.1016/j.ygeno.2020.01.009; PMCID=PMC10298834
Law W.D., Warren R.L., McCallion A.S.
Establishment of an eHAP1 human haploid cell line hybrid reference genome assembled from short and long reads.
Genomics 112:2379-2384(2020)

Cross-references
Cell line collections (Providers) Horizon_Discovery; C669
Cell line databases/resources cancercelllines; CVCL_5J33
Encyclopedic resources Wikidata; Q54832107
Entry history
Entry creation14-Dec-2015
Last entry update10-Apr-2025
Version number15