Cellosaurus cell line HAP1 C9orf72 (-) SMCR8 (-) 3 (CVCL

Cross-references
Cell line name	HAP1 C9orf72 (-) SMCR8 (-) 3
Synonyms	HZGHC007563c006; Double knockout cell line C9orf72 29bp deletion in exon 3 and SMCR8 7bp deletion in exon 1
Accession	CVCL_DX31
Resource Identification Initiative	To cite this cell line use: HAP1 C9orf72 (-) SMCR8 (-) 3 (RRID:CVCL_DX31)
Comments	Group: Haploid karyotype cell line. Knockout cell: Method=CRISPR/Cas9; HGNC; 28337; C9orf72. Knockout cell: Method=CRISPR/Cas9; HGNC; 17921; SMCR8. Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Sequence variations	Gene fusion; HGNC; 76; ABL1 + 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; 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_TP64 (HAP1 SMCR8 (-))
Sex of cell	Male
Age at sampling	40Y
Category	Cancer cell line
Cell line collections (Providers)	Horizon_Discovery; HZGHC007563c006
Entry history
Entry creation	30-Jan-2024
Last entry update	02-May-2024
Version number	2