Derivation of Huntington's disease-affected human embryonic stem cell lines

Stem Cells and Development
Cara K BradleyTomas Stojanov

Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene Htt. To facilitate research into HD, we have derived 4 human embryonic stem cell (hESC) lines containing ≥ 40 CAG repeats in exon 1 of Htt: SIVF017-HD (CAG₄₀), SIVF018-HD (CAG₄₆), SIVF020-HD (CAG₄₈), and SIVF046-HD (CAG₄₅). Additionally, we have derived a normal sibling-matched control for SIVF020-HD, cell line SIVF019. All 5 hESC lines had a normal karyotype, expressed pluripotency markers including Oct4, SSEA3, and Tra-1-81, and could be maintained in culture for multiple (>40) passages. Teratoma studies revealed that the hESC lines were capable of differentiating into cells representative of the 3 germ layers. Furthermore, in vitro neuronal differentiation experiments have confirmed that the hESC lines were able to generate MAP2-positive neuronal cells that express the Htt protein. Combined, these experiments confirm that the cell lines represent pluripotent stem cell lines. These HD-affected hESC lines will be made available to biomedical research laboratories and will provide a valuable tool to investigate the mechanisms and potential treatments for HD.

References

Jul 21, 1995·Science·M P DuyaoA L Joyner
May 1, 1996·Movement Disorders : Official Journal of the Movement Disorder Society·A FeiginI Shoulson
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·D C RubinszteinD Craufurd
Jul 11, 2003·Proceedings of the National Academy of Sciences of the United States of America·Maurice A CurtisRichard L M Faull
Feb 12, 2004·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·Sharon Gerecht-Nir, Joseph Itskovitz-Eldor
Dec 17, 2004·Journal of Cellular and Molecular Medicine·Michael Xavier DossAgapios Sachinidis
Feb 12, 2005·Reproductive Biomedicine Online·Y VerlinskyA Kuliev
Jan 24, 2007·Lancet·Francis O Walker
Mar 16, 2007·Journal of Medical Genetics·Oliver W J QuarrellJ Warner
May 16, 2007·PLoS Genetics·Linda S KaltenbachRobert E Hughes
Aug 2, 2007·Nature Reviews. Drug Discovery·Colin W Pouton, John M Haynes
Aug 23, 2007·ILAR Journal·Shilpa RamaswamyJeffrey H Kordower
Feb 19, 2008·Nature Biotechnology·Kenji OsafuneDouglas A Melton
Apr 23, 2008·Stem Cells and Development·Shi V Liu
Jul 1, 2008·The European Journal of Neuroscience·Joana M Gil, Ana Cristina Rego
Aug 12, 2008·Cell·In-Hyun ParkGeorge Q Daley
Oct 17, 2008·Proceedings of the National Academy of Sciences of the United States of America·Laetitia AubryAnselme L Perrier
Nov 5, 2008·Journal of Cellular Biochemistry·Jeremy Micah Crook, Nao Rei Kobayashi
Jan 3, 2009·Brain Research Reviews·Joana M Gil, A Cristina Rego
May 12, 2009·Drug Discovery Today·Wolfgang FeckeFreddy Heitz
Jul 4, 2009·Reproductive Biomedicine Online·Jonathan C NiclisDavid S Cram
Aug 26, 2009·Toxicological Sciences : an Official Journal of the Society of Toxicology·Robert E Chapin, Donald B Stedman
Nov 13, 2009·Methods in Molecular Biology·Teija T PeuraTomas Stojanov
Feb 18, 2010·Proceedings of the National Academy of Sciences of the United States of America·Bao-Yang HuSu-Chun Zhang
Jun 19, 2010·Nature·Meredith Wadman

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Citations

May 19, 2011·Stem Cells and Development·Dalit Ben-YosefRachel Eiges
Jan 1, 2014·Journal of Clinical Medicine·Tomer Halevy, Achia Urbach
Jan 31, 2016·Experimental Neurology·Monika M Golas, Bjoern Sander
Nov 20, 2012·Experimental Cell Research·Jasmine Sum-Yee YungElly Sau-Wai Ngan
Jul 4, 2012·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Richard L Carter, Anthony W S Chan
Jun 28, 2016·Stem Cell Research·Biljana DumevskaUli Schmidt
Jun 28, 2016·Stem Cell Research·Biljana DumevskaTeija Peura
Jun 28, 2016·Stem Cell Research·Biljana DumevskaUli Schmidt
Jun 28, 2016·Stem Cell Research·Biljana DumevskaUli Schmidt
Jun 28, 2016·Stem Cell Research·Biljana DumevskaTeija Peura
Oct 3, 2015·Brain Research·Ningzhe ZhangLisa M Ellerby
Mar 28, 2013·Biotechnology Advances·Nina TandonGordana Vunjak-Novakovic
Mar 6, 2013·Molecular and Cellular Neurosciences·Julia A Kaye, Steven Finkbeiner
Oct 16, 2015·Brain Research·Virginia B Mattis, Clive N Svendsen
Jun 9, 2016·Nature Communications·Abdellatif BenraissSteven A Goldman
Apr 24, 2019·Clinical Transplantation·Jing Hu, Jimei Wang
Jul 26, 2018·Molecular Neurobiology·Sundramurthy KumarBalázs Gulyás
Jul 4, 2016·Journal of Huntington's Disease·Adelaide Tousley, Kimberly B Kegel-Gleason

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Methods Mentioned

BETA
biopsy
PCR
transgenic

Software Mentioned

GeneMapper
IN Cell Investigator
3100 Genetic Analyzer

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