Cellosaurus logo
expasy logo

Cellosaurus GM04022 (CVCL_1H81)

[Text][XML][JSON]
Cell line name GM04022
Accession CVCL_1H81
Resource Identification Initiative To cite this cell line use: GM04022 (RRID:CVCL_1H81)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at 50% risk for disease.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1H82 ! GM04023
Sex of cell Female
Age at sampling 28Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=25928884; DOI=10.1186/s13024-015-0018-7; PMCID=PMC4411791
Melvin M. Evers, Menno H. Schut, Barry A. Pepers, Melek Atalar, Martine J. van Belzen, Richard Lewis Maxwell Faull, Raymund A.C. Roos, Willeke M.C. van Roon-Mom;
Making (anti-) sense out of huntingtin levels in Huntington disease.
Mol. Neurodegener. 10:21.1-21.11(2015)

Cross-references
Cell line collections (Providers) Coriell; GM04022
Cell line databases/resources CLO; CLO_0016242
Encyclopedic resources Wikidata; Q54838369
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15