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Cellosaurus GM04281 (CVCL_8519)

[Text version]
Cell line name GM04281
Accession CVCL_8519
Resource Identification Initiative To cite this cell line use: GM04281 (RRID:CVCL_8519)
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; 4851; HTT; Repeat_expansion; p.Gln18[71] (c.52CAG(71)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=18691744; PubMed=25928884).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F169 (GM23225)CVCL_D078 (HD-iPS1)CVCL_D079 (HD-iPS11)
CVCL_D080 (HD-iPS4)CVCL_1N96 (ND42228)CVCL_Y846 (ND42229)
CVCL_Y847 (ND42230)CVCL_GP58 (ND50032)CVCL_GP59 (ND50033)
Originate from same individual CVCL_F113 ! GM04282
Sex of cell Female
Age at sampling 20Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041
Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A., Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.
Disease-specific induced pluripotent stem cells.
Cell 134:877-886(2008)

PubMed=25928884; DOI=10.1186/s13024-015-0018-7
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)

Cross-references
Cell line collections (Providers) Coriell; GM04281
Cell line databases/resources CLO; CLO_0019589
Encyclopedic resources Wikidata; Q54838463
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number16