Cellosaurus cell line GM04022 (CVCL

Cellosaurus GM04022 (CVCL_1H81)

Cross-references
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 Mulivor R.A., Suchy S.F. 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 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)
Cell line collections (Providers)	Coriell; GM04022
Cell line databases/resources	CLO; CLO_0016242
Encyclopedic resources	Wikidata; Q54838369
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	15