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, Karyn Meltz
RA   Schneider, Valerie A.
RA   Graves-Lindsay, Tina A.
RA   Fulton, Robert S.
RA   Agarwala, Richa
RA   Huddleston, John Lawton
RA   Shiryev, Sergey A.
RA   Morgulis, Aleksandr
RA   Surti, Urvashi
RA   Warren, Wesley C.
RA   Church, Deanna M.
RA   Eichler, Evan E.
RA   Wilson, Richard K.
RT   "Single haplotype assembly of the human genome from a hydatidiform
RT   mole.";
RL   Genome Res. 24:2066-2076(2014).
//
RX   PubMed=30013044; DOI=10.1038/s41592-018-0054-7; PMCID=PMC6341484;
RA   Li, Heng
RA   Bloom, Jonathan M.
RA   Farjoun, Yossi
RA   Fleharty, Mark
RA   Gauthier, Laura
RA   Neale, Benjamin Michael
RA   MacArthur, Daniel G.
RT   "A synthetic-diploid benchmark for accurate variant-calling
RT   evaluation.";
RL   Nat. Methods 15:595-597(2018).
//
RX   PubMed=27895111; DOI=10.1101/gr.214007.116; PMCID=PMC5411763;
RA   Huddleston, John Lawton
RA   Chaisson, Mark J.P.
RA   Steinberg, Karyn Meltz
RA   Warren, Wesley C.
RA   Hoekzema, Kendra
RA   Gordon, David
RA   Graves-Lindsay, Tina A.
RA   Munson, Katherine M.
RA   Kronenberg, Zev N.
RA   Vives, Laura
RA   Peluso, Paul
RA   Boitano, Matthew
RA   Chin, Chen-Shin
RA   Korlach, Jonas
RA   Wilson, Richard K.
RA   Eichler, Evan 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, Valerie A.
RA   Graves-Lindsay, Tina A.
RA   Howe, Kerstin
RA   Bouk, Nathan
RA   Chen, Hsiu-Chuan
RA   Kitts, Paul A.
RA   Murphy, Terence D.
RA   Pruitt, Kim Dixon
RA   Thibaud-Nissen, Francoise
RA   Albracht, Derek
RA   Fulton, Robert S.
RA   Kremitzki, Milinn
RA   Magrini, Vincent
RA   Markovic, Chris
RA   McGrath, Sean
RA   Steinberg, Karyn Meltz
RA   Auger, Kate
RA   Chow, William
RA   Collins, Joanna
RA   Harden, Glenn
RA   Hubbard, Timothy John Phillip
RA   Pelan, Sarah
RA   Simpson, Jared T.
RA   Threadgold, Glen
RA   Torrance, James
RA   Wood, Jonathan M.
RA   Clarke, Laura
RA   Koren, Sergey
RA   Boitano, Matthew
RA   Peluso, Paul
RA   Li, Heng
RA   Chin, Chen-Shan
RA   Phillippy, Adam M.
RA   Durbin, Richard
RA   Wilson, Richard K.
RA   Flicek, Paul
RA   Eichler, Evan E.
RA   Church, Deanna 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).
//