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Cellosaurus GM02183 (CVCL_W557)

[Text version]
Cell line name GM02183
Synonyms GM-2183; GM 2183; GM2183
Accession CVCL_W557
Resource Identification Initiative To cite this cell line use: GM02183 (RRID:CVCL_W557)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
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[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (PubMed=22748968).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_IW28 (CS83iCTR33-n1)CVCL_ZC84 (CS83iCTR33-n2)CVCL_W586 (HD33i.2)
CVCL_W587 (HD33i.8)CVCL_W588 (HD33n)CVCL_Y808 (ND36997)
CVCL_Y809 (ND41113)CVCL_RY47 (ND50070)CVCL_W565 (UW83iCTR-i.8)
Originate from same individual CVCL_W556 ! GM02182
Sex of cell Female
Age at sampling 21Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6220707; DOI=10.1016/0006-291x(83)90361-3
Chua C.C., Geiman D.E., Ladda R.L.
Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease.
Biochem. Biophys. Res. Commun. 111:690-699(1983)

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=22748968; DOI=10.1016/j.stem.2012.04.027; PMCID=PMC3804072
HD iPSC Consortium
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.
Cell Stem Cell 11:264-278(2012)

Cross-references
Cell line collections (Providers) Coriell; GM02183
Cell line databases/resources CLO; CLO_0031788
CLO; CLO_0037414
LINCS_LDP; LPC-1015
Biological sample resources BioSample; SAMN00807584
Encyclopedic resources Wikidata; Q54837357
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17