• Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[42] (c.52CAG(42)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
  

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=6458814; DOI=10.1073/pnas.78.10.6451; PMCID=PMC349057
Dominic A. Scudiero, Sharon A. Meyer, Brian E. Clatterbuck, Robert E. Tarone, Jay H. Robbins;
Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations.
Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981)

PubMed=7067035; DOI=10.1093/carcin/3.1.33
Ian A. Teo, Colin Francis Arlett;
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents.
Carcinogenesis 3:33-37(1982)

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=25928884; DOI=10.1186/s13024-015-0018-7; PMCID=PMC4411791
Melvin M. Evers, Menno H. Schut, Barry A. Pepers, Melek Atalar, Martine J. van Belzen, Richard Lewis Maxwell Faull, Raymund A.C. Roos, Willeke M.C. van Roon-Mom;
Making (anti-) sense out of huntingtin levels in Huntington disease.
Mol. Neurodegener. 10:21.1-21.11(2015)