Cell line name |
GM01083 |
Synonyms |
GM-1083; GM01083A; GM1083A |
Accession |
CVCL_V037 |
Resource Identification Initiative |
To cite this cell line use: GM01083 (RRID:CVCL_V037) |
Comments |
Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057. |
Sequence variations |
- Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (Coriell=GM01083).
|
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_V043 ! GM03643 |
Sex of cell |
Female |
Age at sampling |
47Y |
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) CLPUB00387 Coriell L.L., Greene A.E., Mulivor R.A. The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980) 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) |
Cross-references |
Cell line collections (Providers) |
Coriell; GM01083
|
Cell line databases/resources |
CLO; CLO_0030363
|
Biological sample resources |
BioSample; SAMN00803612
|
Encyclopedic resources |
Wikidata; Q54836636
|
Entry history |
Entry creation | 16-Apr-2014 |
Last entry update | 30-Jan-2024 |
Version number | 15 |
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