Cellosaurus cell line GM04855 (CVCL

Cellosaurus GM04855 (CVCL_1I61)

Cross-references
Cell line name	GM04855
Accession	CVCL_1I61
Resource Identification Initiative	To cite this cell line use: GM04855 (RRID:CVCL_1I61)
Comments	Part of: Venezuelan Huntington disease kindreds subcollection. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[48] (c.52CAG(48)) (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_1I60 ! GM04854
Sex of cell	Male
Age at sampling	11Y
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)
Cell line collections (Providers)	Coriell; GM04855
Cell line databases/resources	CLO; CLO_0018188
Encyclopedic resources	Wikidata; Q54838722
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	12