ID   HAP1 KMT2D (-)
AC   CVCL_SV04
SY   HZGHC001114c006; KMT2D knockout cell line 5bp deletion
DR   cancercelllines; CVCL_SV04
DR   Horizon_Discovery; HZGHC001114c006
DR   Wikidata; Q54876013
RX   PubMed=31659326;
CC   Group: Haploid karyotype cell line.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:7133; KMT2D.
CC   Sequence variation: 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).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 12
//
RX   PubMed=31659326; DOI=10.1038/s41592-019-0614-5;
RA   Smits, Arne H.
RA   Ziebell, Frederik
RA   Joberty, Gerard
RA   Zinn, Nico
RA   Mueller, William F.
RA   Clauder-Munster, Sandra
RA   Eberhard, Dirk
RA   Falth Savitski, Maria
RA   Grandi, Paola
RA   Jakob, Petra
RA   Michon, Anne-Marie
RA   Sun, Hanice
RA   Tessmer, Karen
RA   Burckstummer, Tilmann
RA   Bantscheff, Marcus
RA   Steinmetz, Lars M.
RA   Drewes, Gerard
RA   Huber, Wolfgang
RT   "Biological plasticity rescues target activity in CRISPR knock outs.";
RL   Nat. Methods 16:1087-1093(2019).
//