• Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (PubMed=22748968).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6220707; DOI=10.1016/0006-291x(83)90361-3
Chu Chang Chua, Deborah E. Geiman, Roger L. Ladda;
Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease.
Biochem. Biophys. Res. Commun. 111:690-699(1983)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=22748968; DOI=10.1016/j.stem.2012.04.027; PMCID=PMC3804072
HD iPSC Consortium
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.
Cell Stem Cell 11:264-278(2012)

PubMed=34746695; DOI=10.1016/j.isci.2021.103221; PMCID=PMC8554488
Johnathan Li, Ryan G. Lim, Julia A. Kaye, Victoria J. Dardov, Alyssa Nicole Coyne, Jie Wu, Pamela Milani, Andrew Cheng, Terri G. Thompson, Loren Ornelas, Aaron Frank ...Show all 46 authors... , Miriam Adam, Maria Gabriela Banuelos, Malcolm Casale, Veerle Cox, Renan Antonio Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey Hayes, Ronald J. Holewenski, Susan Lei, Alexander LeNail, Leandro Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline T. Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia K. Wyman, Stephanie Yang, Jennifer Eileen Van Eyk, Thomas Eugene Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson; Show fewer authors
NeuroLINCS Consortium
NYGC ALS Consortium
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
iScience 24:103221.1-103221.33(2021)