ID   HAP1 HTT (-) 1
AC   CVCL_SR86
SY   HZGHC004595c006; HTT knockout cell line 2bp deletion
DR   cancercelllines; CVCL_SR86
DR   Horizon_Discovery; HZGHC004595c006
DR   Wikidata; Q54875675
RX   PubMed=39257448;
CC   Group: Haploid karyotype cell line.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:4851; HTT.
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: 10-04-25; Version: 12
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RX   PubMed=39257448; DOI=10.12688/f1000research.153670.1; PMCID=PMC11384196;
RA   Fanti R., Ayoubi R., Alende C., Fotouhi M., Gonzalez Bolivar S.,
RA   Chandrasekaran R., Southern K., Edwards A.M., Harding R.J., Laflamme C.;
RG   ABIF Consortium;
RG   NeuroSGC/YCharOS/EDDU Collaborative Group;
RT   "A guide to selecting high-performing antibodies for huntingtin
RT   (UniProt ID: P42858) for use in western blot, immunoprecipitation,
RT   and immunofluorescence.";
RL   F1000Research 13:922.1-922.12(2024).
//