ID   eHAP E9
AC   CVCL_5J33
SY   eHAPE9; eHAP; Engineered-HAPloid clone E9
DR   cancercelllines; CVCL_5J33
DR   Horizon_Discovery; C669
DR   Wikidata; Q54832107
RX   PubMed=25373145;
RX   PubMed=31962144;
CC   Group: Haploid karyotype cell line.
CC   Sequence variation: 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).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Ser215Gly (c.643A>G); ClinVar=VCV000265337; Zygosity=Hemizygous (from parent cell line).
CC   Omics: Genomics; Whole genome sequencing.
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C3174; Chronic myelogenous leukemia, BCR-ABL1 positive
DI   ORDO; Orphanet_521; Chronic myeloid leukemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y019 ! HAP1
SX   Male
AG   40Y
CA   Cancer cell line
DT   Created: 14-12-15; Last updated: 10-04-25; Version: 15
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RX   PubMed=25373145; DOI=10.1101/gr.177220.114; PMCID=PMC4248322;
RA   Essletzbichler, Patrick
RA   Konopka, Tomasz
RA   Santoro, Federica
RA   Chen, Doris
RA   Gapp, Bianca V.
RA   Kralovics, Robert
RA   Brummelkamp, Thijn Reinout
RA   Nijman, Sebastian M.B.
RA   Burckstummer, Tilmann
RT   "Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid
RT   human cell line.";
RL   Genome Res. 24:2059-2065(2014).
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RX   PubMed=31962144; DOI=10.1016/j.ygeno.2020.01.009; PMCID=PMC10298834;
RA   Law, William D.
RA   Warren, Rene L.
RA   McCallion, Andrew S.
RT   "Establishment of an eHAP1 human haploid cell line hybrid reference
RT   genome assembled from short and long reads.";
RL   Genomics 112:2379-2384(2020).
//