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Cellosaurus CHM1hTERT (CVCL_VU11)

[Text version]
Cell line name CHM1hTERT
Synonyms CHM1htert; CHM1
Accession CVCL_VU11
Resource Identification Initiative To cite this cell line use: CHM1hTERT (RRID:CVCL_VU11)
Comments Characteristics: Has a completely homozygous genome, thus representing a functionally haploid genome.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Omics: Genomics; Whole genome sequencing.
Anecdotal: Because of its homozygous genome it is being used to build/correct new generation of human genome assemblies.
Cell type: Fibroblast; CL=CL_0000057.
Disease Hydatidiform mole (NCIt: C3110)
Hydatidiform mole (ORDO: Orphanet_99927)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Fetus
Category Telomerase immortalized cell line
Web pages Info; -; -; https://www.bio-itworld.com/news/2014/06/30/the-hunt-for-a-new-human-reference-genome
Info; diArk; -; https://www.diark.org/diark/species_list/Homo_sapiens_CHM1htert
Publications

PubMed=25373144; DOI=10.1101/gr.180893.114; PMCID=PMC4248323
Karyn Meltz Steinberg, Valerie A. Schneider, Tina A. Graves-Lindsay, Robert S. Fulton, Richa Agarwala, John Lawton Huddleston, Sergey A. Shiryev, Aleksandr Morgulis, Urvashi Surti, Wesley C. Warren, Deanna M. Church ...Show all 13 authors... , Evan E. Eichler, Richard K. Wilson; Show fewer authors
Single haplotype assembly of the human genome from a hydatidiform mole.
Genome Res. 24:2066-2076(2014)

PubMed=27895111; DOI=10.1101/gr.214007.116; PMCID=PMC5411763
John Lawton Huddleston, Mark J.P. Chaisson, Karyn Meltz Steinberg, Wesley C. Warren, Kendra Hoekzema, David Gordon, Tina A. Graves-Lindsay, Katherine M. Munson, Zev N. Kronenberg, Laura Vives, Paul Peluso ...Show all 16 authors... , Matthew Boitano, Chen-Shin Chin, Jonas Korlach, Richard K. Wilson, Evan E. Eichler; Show fewer authors
Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Genome Res. 27:677-685(2017)

PubMed=28396521; DOI=10.1101/gr.213611.116; PMCID=PMC5411779
Valerie A. Schneider, Tina A. Graves-Lindsay, Kerstin Howe, Nathan Bouk, Hsiu-Chuan Chen, Paul A. Kitts, Terence D. Murphy, Kim Dixon Pruitt, Francoise Thibaud-Nissen, Derek Albracht, Robert S. Fulton ...Show all 38 authors... , Milinn Kremitzki, Vincent Magrini, Chris Markovic, Sean McGrath, Karyn Meltz Steinberg, Kate Auger, William Chow, Joanna Collins, Glenn Harden, Timothy John Phillip Hubbard, Sarah Pelan, Jared T. Simpson, Glen Threadgold, James Torrance, Jonathan M. Wood, Laura Clarke, Sergey Koren, Matthew Boitano, Paul Peluso, Heng Li, Chen-Shan Chin, Adam M. Phillippy, Richard Durbin, Richard K. Wilson, Paul Flicek, Evan E. Eichler, Deanna M. Church; Show fewer authors
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
Genome Res. 27:849-864(2017)

PubMed=30013044; DOI=10.1038/s41592-018-0054-7; PMCID=PMC6341484
Heng Li, Jonathan M. Bloom, Yossi Farjoun, Mark Fleharty, Laura Gauthier, Benjamin Michael Neale, Daniel G. MacArthur;
A synthetic-diploid benchmark for accurate variant-calling evaluation.
Nat. Methods 15:595-597(2018)

Cross-references
Biological sample resources BioSample; SAMN02205338
BioSample; SAMN02743421
BioSample; SAMN02744161
Encyclopedic resources Wikidata; Q93450976
Entry history
Entry creation24-May-2019
Last entry update10-Apr-2025
Version number6