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Cellosaurus GM03621 (CVCL_F063)

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Cell line name GM03621
Synonyms GM 3621
Accession CVCL_F063
Resource Identification Initiative To cite this cell line use: GM03621 (RRID:CVCL_F063)
Comments Population: Caucasian.
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[70] (c.52CAG(70)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM03620).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZC82 (CS21iHD60-n5)CVCL_ZC83 (CS21iHD60-n8)CVCL_W589 (HD60i.3)
CVCL_W590 (HD60i.4)CVCL_W591 (HD60n)CVCL_Y807 (ND36998)
Originate from same individual CVCL_F062 ! GM03620
Sex of cell Female
Age at sampling 29Y
Category Finite cell line
Publications

PubMed=6220707; DOI=10.1016/0006-291x(83)90361-3
Chu Chang Chua, Deborah E. Geiman, Roger L. Ladda;
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
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)

Cross-references
Cell line collections (Providers) Coriell; GM03621
Cell line databases/resources CLO; CLO_0017192
Biological sample resources BioSample; SAMN00808472
Encyclopedic resources Wikidata; Q54838162
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number18