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Cellosaurus GM00654 (CVCL_AB43)

[Text version]
Cell line name GM00654
Synonyms GM-654
Accession CVCL_AB43
Resource Identification Initiative To cite this cell line use: GM00654 (RRID:CVCL_AB43)
Comments Population: Caucasian; Finnish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6826; MAN2B1; Simple; p.Gln639Ter (c.1915C>T); ClinVar=VCV000001686; Zygosity=Heterozygous (Coriell=GM00654).
  • Mutation; HGNC; 6826; MAN2B1; Simple; p.Arg750Trp (c.2248C>T); ClinVar=VCV000001687; Zygosity=Heterozygous (Coriell=GM00654).
Disease Alpha-mannosidosis (NCIt: C84548)
Alpha-mannosidosis (ORDO: Orphanet_61)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
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) 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)

Cross-references
Cell line collections (Providers) Coriell; GM00654
Cell line databases/resources CLO; CLO_0028852
Encyclopedic resources Wikidata; Q54836379
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number13