ID   CHM1hTERT
AC   CVCL_VU11
SY   CHM1htert; CHM1
DR   BioSample; SAMN02205338
DR   BioSample; SAMN02743421
DR   BioSample; SAMN02744161
DR   Wikidata; Q93450976
RX   PubMed=25373144;
RX   PubMed=27895111;
RX   PubMed=28396521;
RX   PubMed=30013044;
WW   Info; -; -; https://www.bio-itworld.com/news/2014/06/30/the-hunt-for-a-new-human-reference-genome
WW   Info; diArk; -; https://www.diark.org/diark/species_list/Homo_sapiens_CHM1htert
CC   Characteristics: Has a completely homozygous genome, thus representing a functionally haploid genome.
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Omics: Genomics; Whole genome sequencing.
CC   Anecdotal: Because of its homozygous genome it is being used to build/correct new generation of human genome assemblies.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3110; Hydatidiform mole
DI   ORDO; Orphanet_99927; 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: 10-04-25; Version: 6
//
RX   PubMed=25373144; DOI=10.1101/gr.180893.114; PMCID=PMC4248323;
RA   Steinberg K.M., Schneider V.A., Graves-Lindsay T.A., Fulton R.S.,
RA   Agarwala R., Huddleston J.L., Shiryev S.A., Morgulis A., Surti U.,
RA   Warren W.C., Church D.M., Eichler E.E., Wilson R.K.;
RT   "Single haplotype assembly of the human genome from a hydatidiform
RT   mole.";
RL   Genome Res. 24:2066-2076(2014).
//
RX   PubMed=27895111; DOI=10.1101/gr.214007.116; PMCID=PMC5411763;
RA   Huddleston J.L., Chaisson M.J.P., Steinberg K.M., Warren W.C.,
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; PMCID=PMC5411779;
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; PMCID=PMC6341484;
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).
//