ArticleGenome research2014
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line.
Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 173 papers.
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Who cites it
173 citing papers in PubMed, 284 citations in OpenAlex.
- Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.Nature genetics · 2026Article
- Article
- Gigabase-scale deletion scanning of the human genome.bioRxiv : the preprint server for biology · 2026Article
- Autophagosome turnover requires Arp2/3 complex-mediated maintenance of lysosomal integrity.Molecular biology of the cell · 2026Article
- Mitochondrial metabolic imbalance drives diploidization in mouse haploid embryonic stem cells via NADPH overload.Nature communications · 2026Article
- High-throughput mapping of spontaneous mitotic crossover and genome instability events with sci-L3-Strand-seq.Nucleic acids research · 2026Article
- Quantitative analysis of genetic interactions in human cells from genome-wide CRISPR-Cas9 screens.bioRxiv : the preprint server for biology · 2026Article
- A metabolic cell death program downstream of SARM1 couples NADProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.bioRxiv : the preprint server for biology · 2025Article
- Insulated piggyBac and FRT vectors for engineering transgenic homozygous and heterozygous eHAP cells.Biology open · 2025Article
- Protocol for fast antibiotic resistance-based gene editing of mammalian cells with CRISPR-Cas9.STAR protocols · 2025Article
- A global genetic interaction map of a human cell reveals conserved principles of genetic networks.bioRxiv : the preprint server for biology · 2025Article
- The design and engineering of synthetic genomes.Nature reviews. Genetics · 2025Review
- Isolation and characterization of haploid heterothallic beer yeasts.Applied microbiology and biotechnology · 2025Article
- TDP1 splice-site mutation causes HAP1 cell hypersensitivity to topoisomerase I inhibition.Nucleic acids research · 2025Article
- Generation of Monosomy 21q Human iPS Cells by CRISPR/Cas9-Mediated Interstitial Megabase Deletion.Genes to cells : devoted to molecular & cellular mechanisms · 2025Article
- Engineering structural variants to interrogate genome function.Nature genetics · 2024Review
- ARF1 compartments direct cargo flow via maturation into recycling endosomes.Nature cell biology · 2024Article
- Article
- Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.Communications biology · 2024Article
113 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Near-haploid human cell lines are instrumental for genetic screens and genome engineering as gene inactivation is greatly facilitated by the absence of a second gene copy. However, no completely haploid human cell line has been described, hampering the genetic accessibility of a subset of genes. The near-haploid human cell line HAP1 contains a single copy of all chromosomes except for a heterozygous 30-megabase fragment of Chromosome 15. This large fragment encompasses 330 genes and is integrated on the long arm of Chromosome 19. Here, we employ a CRISPR/Cas9-based genome engineering strategy to excise this sizeable chromosomal fragment and to efficiently and reproducibly derive clones that retain their haploid state. Importantly, spectral karyotyping and single-nucleotide polymorphism (SNP) genotyping revealed that engineered-HAPloid (eHAP) cells are fully haploid with no gross chromosomal aberrations induced by Cas9. Furthermore, whole-genome sequence and transcriptome analysis of the parental HAP1 and an eHAP cell line showed that transcriptional changes are limited to the excised Chromosome 15 fragment. Together, we demonstrate the feasibility of efficiently engineering megabase deletions with the CRISPR/Cas9 technology and report the first fully haploid human cell line.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.