| Cell line name |
GM00121 |
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| Synonyms |
GM-121; GM00121A |
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| Accession |
CVCL_V751 |
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| Resource Identification Initiative |
To cite this cell line use: GM00121 (RRID:CVCL_V751) |
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| Comments |
Population: African American.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; 4696; GUSB; Simple; p.Arg357Ter (c.1069C>T); ClinVar=VCV000000908; Zygosity=Heterozygous (Coriell=GM00121).
- Mutation; HGNC; 4696; GUSB; Simple; p.Trp627Cys (c.1881G>T); ClinVar=VCV000000907; Zygosity=Heterozygous (Coriell=GM00121).
|
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| Disease |
Sly syndrome (NCIt: C84903)
Mucopolysaccharidosis type 7 (ORDO: Orphanet_584) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
3Y |
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| Category |
Finite cell line |
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| Publications | PubMed=817873; DOI=10.1159/000130544
Sly W.S., Greene A.E., Coriell L.L.
Beta-glucuronidase deficiency mucopolysaccharidosis. Repository identification No. GM-121.
Cytogenet. Cell Genet. 15:410-412(1975) 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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00121
|
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| Cell line databases/resources |
CLO; CLO_0025829
|
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| Encyclopedic resources |
Wikidata; Q54836051
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 16 |
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