ID   CHM13hTERT
AC   CVCL_VU12
SY   CHM13htert; CHM13
DR   BioSample; SAMN03255769
DR   Wikidata; Q93450973
RX   PubMed=27895111;
RX   PubMed=28396521;
RX   PubMed=30013044;
RX   PubMed=32663838;
WW   https://www.diark.org/diark/species_list/Homo_sapiens_CHM13htert
CC   Characteristics: Has a completely homozygous genome, thus representing a functionally haploid genome.
CC   Transfected with: HGNC; 11730; TERT.
CC   Omics: Genome sequenced.
CC   Anecdotal: Because of its homozygous genome it is being used to build/correct new generation of human genome assemblies.
DI   NCIt; C3110; Hydatidiform mole
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Fetus
CA   Telomerase immortalized cell line
DT   Created: 24-05-19; Last updated: 21-03-23; Version: 4
//
RX   PubMed=27895111; DOI=10.1101/gr.214007.116;
RA   Huddleston J., Chaisson M.J.P., Steinberg K.M., Warren W.,
RA   Hoekzema K., Gordon D., Graves-Lindsay T.A., Munson K.M.,
RA   Kronenberg Z.N., Vives L., Peluso P., Boitano M., Chin C.-S.,
RA   Korlach J., Wilson R.K., Eichler E.E.;
RT   "Discovery and genotyping of structural variation from long-read
RT   haploid genome sequence data.";
RL   Genome Res. 27:677-685(2017).
//
RX   PubMed=28396521; DOI=10.1101/gr.213611.116;
RA   Schneider V.A., Graves-Lindsay T.A., Howe K., Bouk N., Chen H.-C.,
RA   Kitts P.A., Murphy T.D., Pruitt K.D., Thibaud-Nissen F., Albracht D.,
RA   Fulton R.S., Kremitzki M., Magrini V., Markovic C., McGrath S.,
RA   Steinberg K.M., Auger K., Chow W., Collins J., Harden G., Hubbard T.J.P.,
RA   Pelan S., Simpson J.T., Threadgold G., Torrance J., Wood J.M.,
RA   Clarke L., Koren S., Boitano M., Peluso P., Li H., Chin C.-S.,
RA   Phillippy A.M., Durbin R., Wilson R.K., Flicek P., Eichler E.E.,
RA   Church D.M.;
RT   "Evaluation of GRCh38 and de novo haploid genome assemblies
RT   demonstrates the enduring quality of the reference assembly.";
RL   Genome Res. 27:849-864(2017).
//
RX   PubMed=30013044; DOI=10.1038/s41592-018-0054-7;
RA   Li H., Bloom J.M., Farjoun Y., Fleharty M., Gauthier L., Neale B.M.,
RA   MacArthur D.G.;
RT   "A synthetic-diploid benchmark for accurate variant-calling
RT   evaluation.";
RL   Nat. Methods 15:595-597(2018).
//
RX   PubMed=32663838; DOI=10.1038/s41586-020-2547-7;
RA   Miga K.H., Koren S., Rhie A., Vollger M.R., Gershman A., Bzikadze A.V.,
RA   Brooks S., Howe E., Porubsky D., Logsdon G.A., Schneider V.A.,
RA   Potapova T.A., Wood J.M., Chow W., Armstrong J., Fredrickson J., Pak E.,
RA   Tigyi K., Kremitzki M., Markovic C., Maduro V., Dutra A.,
RA   Bouffard G.G., Chang A.M., Hansen N.F., Wilfert A.B.,
RA   Thibaud-Nissen F., Schmitt A.D., Belton J.-M., Selvaraj S.,
RA   Dennis M.Y., Soto D.C., Sahasrabudhe R., Kaya G., Quick J.,
RA   Loman N.J., Holmes N., Loose M.W., Surti U., Risques R.A.,
RA   Graves-Lindsay T.A., Fulton R.S., Hall I.M., Paten B., Howe K.,
RA   Timp W., Young A.C., Mullikin J.C., Pevzner P.A., Gerton J.L.,
RA   Sullivan B.A., Eichler E.E., Phillippy A.M.;
RT   "Telomere-to-telomere assembly of a complete human X chromosome.";
RL   Nature 585:79-84(2020).
//