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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: Genome sequenced.
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 https://www.diark.org/diark/species_list/Homo_sapiens_CHM1htert
http://www.bio-itworld.com/2014/6/30/hunt-new-human-reference-genome.html
Publications

PubMed=25373144; DOI=10.1101/gr.180893.114; PMCID=PMC4248323
Steinberg K.M., Schneider V.A., Graves-Lindsay T.A., Fulton R.S., Agarwala R., Huddleston J.L., Shiryev S.A., Morgulis A., Surti U., Warren W.C., Church D.M., Eichler E.E., Wilson R.K.
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
Huddleston J.L., Chaisson M.J.P., Steinberg K.M., Warren W.C., 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; PMCID=PMC5411779
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; PMCID=PMC6341484
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)

Cross-references
Biological sample resources BioSample; SAMN02205338
BioSample; SAMN02743421
BioSample; SAMN02744161
Encyclopedic resources Wikidata; Q93450976
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number5