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Cellosaurus GM02817 (CVCL_AB45)

[Text version]
Cell line name GM02817
Accession CVCL_AB45
Resource Identification Initiative To cite this cell line use: GM02817 (RRID:CVCL_AB45)
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:6826; MAN2B1; Simple; p.Arg750Trp (c.2248C>T); ClinVar=VCV000001687; Zygosity=Homozygous (Coriell=GM02817).
Disease Alpha-mannosidosis (NCIt: C84548)
Alpha-mannosidosis (ORDO: Orphanet_61)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Publications

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; GM02817
Cell line databases/resources CLO; CLO_0012754
Biological sample resources BioSample; SAMN00808131
Encyclopedic resources Wikidata; Q54837704
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14