Cellosaurus cell line GM00305 (CVCL_L939)

• Mutation; 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
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6458814; DOI=10.1073/pnas.78.10.6451
Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E., Robbins J.H.
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
Teo I.A., Arlett C.F.
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
Chua C.C., Geiman D.E., Ladda R.L.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=25928884; DOI=10.1186/s13024-015-0018-7
Evers M.M., Schut M.H., Pepers B.A., Atalar M., van Belzen M.J., Faull R.L.M., Roos R.A.C., van Roon-Mom W.M.C.
Making (anti-) sense out of huntingtin levels in Huntington disease.
Mol. Neurodegener. 10:21.1-21.11(2015)