• Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (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=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=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980
James R. Wagner, Stephan Busche, Bing Ge, Tony Kwan, Tomi Pastinen, Mathieu Blanchette;
The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.
Genome Biol. 15:R37.1-R37.17(2014)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Veronique Adoue, Alicia Schiavi, Nicholas Light, Jonas Carlsson Almlof, Per Lundmark, Bing Ge, Tony Kwan, Maxime Caron, Lars Ronnblom, Chuan Wang, Shu-Huang Chen ...Show all 17 authors... , Alison H. Goodall, Francois Cambien, Panos Deloukas, Willem Hendrik Ouwehand, Ann-Christine Syvanen, Tomi Pastinen; Show fewer authors
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)

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)