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Cellosaurus HAP1 LARGE (-) POMK (-) (CVCL_A1CH)

[Text version]
Cell line name HAP1 LARGE (-) POMK (-)
Synonyms HZGHC007364c011; Double knockout cell line LARGE 43bp deletion in exon 3 and POMK 10bp deletion in exon 4; HAP1 POMK/LARGE1 (-)
Accession CVCL_A1CH
Resource Identification Initiative To cite this cell line use: HAP1 LARGE (-) POMK (-) (RRID:CVCL_A1CH)
Comments Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:6511; LARGE1.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:26267; POMK.
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_TF19 (HAP1 POMK (-) 2)
Sex of cell Male
Age at sampling 40Y
Category Cancer cell line
Publications

PubMed=32975514; DOI=10.7554/eLife.61388; PMCID=PMC7556876
Walimbe A.S., Okuma H., Joseph S., Yang T.-D., Yonekawa T., Hord J.M., Venzke D., Anderson M.E., Torelli S., Manzur A., Devereaux M., Cuellar M., Prouty S., Ocampo Landa S., Yu L.-P., Xiao J.-Y., Dixon J.E., Muntoni F., Campbell K.P.
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
eLife 9:e61388.1-e61388.32(2020)

Cross-references
Cell line collections (Providers) Horizon_Discovery; HZGHC007364c011
Cell line databases/resources cancercelllines; CVCL_A1CH
Encyclopedic resources Wikidata; Q102114093
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number10