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Cellosaurus GM00121 (CVCL_V751)

[Text version]
Cell line name GM00121
Synonyms GM-121; GM00121A
Accession CVCL_V751
Resource Identification Initiative To cite this cell line use: GM00121 (RRID:CVCL_V751)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
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).
Disease Sly syndrome (NCIt: C84903)
Mucopolysaccharidosis type 7 (ORDO: Orphanet_584)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 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; GM00121
Cell line databases/resources CLO; CLO_0025829
Encyclopedic resources Wikidata; Q54836051
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number16