ID   GM04887
AC   CVCL_V574
SY   GM 4887
DR   CLO; CLO_0025777
DR   Coriell; GM04887
DR   Wikidata; Q54838742
RX   CelloPub=CLPUB00447;
RX   PubMed=6230415;
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous.
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_V573 ! GM04886
SX   Female
AG   48Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; 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).
//