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Cellosaurus CHM13hTERT (CVCL_VU12)

Cell line name CHM13hTERT
Synonyms CHM13htert; CHM13
Accession CVCL_VU12
Resource Identification Initiative To cite this cell line use: CHM13hTERT (RRID:CVCL_VU12)
Comments Characteristics: Has a completely homozygous genome, thus representing a functionally haploid genome.
Transfected with: HGNC; 11730; TERT.
Omics: Genome sequenced.
Anecdotal: Because of its homozygous genome it is being used to build/correct new generation of human genome assemblies.
Disease Hydatidiform mole (NCIt: C3110)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Fetus
Category Telomerase immortalized cell line
Web pages https://www.diark.org/diark/species_list/Homo_sapiens_CHM13htert
Publications

PubMed=27895111; DOI=10.1101/gr.214007.116
Huddleston J., Chaisson M.J.P., Steinberg K.M., Warren W., Hoekzema K., Gordon D., Graves-Lindsay T.A., Munson K.M., Kronenberg Z.N., Vives L., Peluso P., Boitano M., Chin C.-S., Korlach J., Wilson R.K., Eichler E.E.
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
Schneider V.A., Graves-Lindsay T.A., Howe K., Bouk N., Chen H.-C., Kitts P.A., Murphy T.D., Pruitt K.D., Thibaud-Nissen F., Albracht D., Fulton R.S., Kremitzki M., Magrini V., Markovic C., McGrath S., Steinberg K.M., Auger K., Chow W., Collins J., Harden G., Hubbard T.J.P., Pelan S., Simpson J.T., Threadgold G., Torrance J., Wood J.M., Clarke L., Koren S., Boitano M., Peluso P., Li H., Chin C.-S., Phillippy A.M., Durbin R., Wilson R.K., Flicek P., Eichler E.E., Church D.M.
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
Li H., Bloom J.M., Farjoun Y., Fleharty M., Gauthier L., Neale B.M., MacArthur D.G.
A synthetic-diploid benchmark for accurate variant-calling evaluation.
Nat. Methods 15:595-597(2018)

PubMed=32663838; DOI=10.1038/s41586-020-2547-7
Miga K.H., Koren S., Rhie A., Vollger M.R., Gershman A., Bzikadze A.V., Brooks S., Howe E., Porubsky D., Logsdon G.A., Schneider V.A., Potapova T.A., Wood J.M., Chow W., Armstrong J., Fredrickson J., Pak E., Tigyi K., Kremitzki M., Markovic C., Maduro V., Dutra A., Bouffard G.G., Chang A.M., Hansen N.F., Wilfert A.B., Thibaud-Nissen F., Schmitt A.D., Belton J.-M., Selvaraj S., Dennis M.Y., Soto D.C., Sahasrabudhe R., Kaya G., Quick J., Loman N.J., Holmes N., Loose M.W., Surti U., Risques R.A., Graves-Lindsay T.A., Fulton R.S., Hall I.M., Paten B., Howe K., Timp W., Young A.C., Mullikin J.C., Pevzner P.A., Gerton J.L., Sullivan B.A., Eichler E.E., Phillippy A.M.
Telomere-to-telomere assembly of a complete human X chromosome.
Nature 585:79-84(2020)

Cross-references
Biological sample resources BioSample; SAMN03255769
Encyclopedic resources Wikidata; Q93450973
Entry history
Entry creation24-May-2019
Last entry update21-Mar-2023
Version number4