Cellosaurus cell line HAP1 C9orf72 (-) 2 (CVCL

Cellosaurus HAP1 C9orf72 (-) 2 (CVCL_SG40)

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Cell line name

HAP1 C9orf72 (-) 2

Synonyms

HZGHC003729c004; C9orf72 knockout cell line 2bp insertion in exon 3

Accession

CVCL_SG40

Resource Identification Initiative

To cite this cell line use: HAP1 C9orf72 (-) 2 (RRID:CVCL_SG40)

Comments

Group: Haploid karyotype cell line.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:28337; C9orf72.
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)
Children:

CVCL_DX29 (HAP1 C9orf72 (-) SMCR8 (-) 1)

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

Sex of cell

Male

Age at sampling

40Y