ID   GM04777
AC   CVCL_Y854
SY   GM 4777
DR   CLO; CLO_0018252
DR   Coriell; GM04777
DR   Wikidata; Q54838676
RX   CelloPub=CLPUB00447;
RX   PubMed=6230415;
RX   PubMed=7847674;
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from child cell line ND38547).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_Y853 ! GM04776
SX   Male
AG   53Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 02-05-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6230415; DOI=10.1016/0022-510x(83)90187-9;
RA   Sumbilla C., Lakowicz J.R.;
RT   "Evidence for normal fibroblast cell membranes from individuals with
RT   Huntington's disease. A fluorescence probe study.";
RL   J. Neurol. Sci. 62:23-40(1983).
//
RX   PubMed=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x;
RA   Etcheberrigaray R., Gibson G.E., Alkon D.L.;
RT   "Molecular mechanisms of memory and the pathophysiology of Alzheimer's
RT   disease.";
RL   Ann. N. Y. Acad. Sci. 747:245-255(1994).
//