• 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
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 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
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 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
Li J., Lim R.G., Kaye J.A., Dardov V.J., Coyne A.N., Wu J., Milani P., Cheng A., Thompson T.G., Ornelas L., Frank A., Adam M., Banuelos M.G., Casale M., Cox V., Escalante-Chong R.A., Daigle J.G., Gomez E., Hayes L., Holewenski R.J., Lei S., LeNail A., Lima L., Mandefro B., Matlock A., Panther L., Patel-Murray N.L., Pham J.T., Ramamoorthy D., Sachs K., Shelley B., Stocksdale J., Trost H., Wilhelm M., Venkatraman V., Wassie B.T., Wyman S.K., Yang S., Van Eyk J.E., Lloyd T.E., Finkbeiner S., Fraenkel E., Rothstein J.D., Sareen D., Svendsen C.N., Thompson L.M.
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)