Cellosaurus cell line HAP1 LARGE (-) POMK (-) (CVCL

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

Cross-references
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 Ameya S. Walimbe, Hidehiko Okuma, Soumya Joseph, Tian-Di Yang, Takahiro Yonekawa, Jeffrey M. Hord, David Venzke, Mary E. Anderson, Silvia Torelli, Adnan Manzur, Megan Devereaux ...Show all 19 authors... , Marco Cuellar, Sally Prouty, Saul Ocampo Landa, Li-Ping Yu, Jun-Yu Xiao, Jack Edward Dixon, Francesco Muntoni, Kevin Peter Campbell; Show fewer authors POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan. eLife 9:e61388.1-e61388.32(2020)
Cell line collections (Providers)	Horizon_Discovery; HZGHC007364c011
Cell line databases/resources	cancercelllines; CVCL_A1CH
Encyclopedic resources	Wikidata; Q102114093
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	10