• Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
  

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=25732146; DOI=10.2174/1566524015666150303110300
Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M.
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015)

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)