ID   HAP1 POMK (-) 2
AC   CVCL_TF19
SY   HZGHC001338c004; POMK knockout cell line 10bp deletion in exon 4
DR   cancercelllines; CVCL_TF19
DR   Horizon_Discovery; HZGHC001338c004
DR   Wikidata; Q54877097
RX   PubMed=32975514;
CC   Group: Haploid karyotype cell line.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 26267; POMK.
CC   Sequence variation: 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).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Ser215Gly (c.643A>G); ClinVar=VCV000265337; Zygosity=Hemizygous (from parent cell line).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C3174; Chronic myelogenous leukemia, BCR-ABL1 positive
DI   ORDO; Orphanet_521; Chronic myeloid leukemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y019 ! HAP1
SX   Male
AG   40Y
CA   Cancer cell line
DT   Created: 14-05-18; Last updated: 02-05-24; Version: 12
//
RX   PubMed=32975514; DOI=10.7554/eLife.61388;
RA   Walimbe A.S., Okuma H., Joseph S., Yang T.-D., Yonekawa T., Hord J.M.,
RA   Venzke D., Anderson M.E., Torelli S., Manzur A., Devereaux M.,
RA   Cuellar M., Prouty S., Ocampo Landa S., Yu L.-P., Xiao J.-Y.,
RA   Dixon J.E., Muntoni F., Campbell K.P.;
RT   "POMK regulates dystroglycan function via LARGE1-mediated elongation
RT   of matriglycan.";
RL   eLife 9:e61388.1-e61388.32(2020).
//