• Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
  
• Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (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=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)

PubMed=30256717; DOI=10.1091/mbc.E18-09-0590
Hung C.L.-K., Maiuri T., Bowie L.E., Gotesman R., Son S., Falcone M., Giordano J.V., Gillis T., Mattis V.B., Lau T., Kwan V., Wheeler V., Schertzer J., Singh K., Truant R.
A patient-derived cellular model for Huntington's disease reveals phenotypes at clinically relevant CAG lengths.
Mol. Biol. Cell 29:2809-2820(2018)