Cellosaurus logo
expasy logo

Cellosaurus HAP1 C9orf72 (-) SMCR8 (-) 2 (CVCL_DX30)

[Text][XML][JSON]
Cell line name HAP1 C9orf72 (-) SMCR8 (-) 2
Synonyms HZGHC007562c008; Double knockout cell line C9orf72 2bp insertion in exon 3 and SMCR8 1bp deletion in exon 1
Accession CVCL_DX30
Resource Identification Initiative To cite this cell line use: HAP1 C9orf72 (-) SMCR8 (-) 2 (RRID:CVCL_DX30)
Comments Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:28337; C9orf72.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:17921; SMCR8.
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_SG40 (HAP1 C9orf72 (-) 2)
Sex of cell Male
Age at sampling 40Y
Category Cancer cell line
Cross-references
Cell line collections (Providers) Horizon_Discovery; HZGHC007562c008
Encyclopedic resources Wikidata; Q127381032
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4