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Cellosaurus GM02051 (CVCL_M993)

[Text version]
Cell line name GM02051
Synonyms GM-2051; GM17334
Accession CVCL_M993
Resource Identification Initiative To cite this cell line use: GM02051 (RRID:CVCL_M993)
Comments Part of: Human variation panel.
Population: Arab.
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.His72Leu (c.215A>T) (H71L); ClinVar=VCV000001684; Zygosity=Homozygous (Coriell=GM02051).
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 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; GM02051
Coriell; GM17334
Cell line databases/resources CLO; CLO_0013616
CLO; CLO_0032552
Biological sample resources BioSample; SAMN00807432
Encyclopedic resources Wikidata; Q54837267
Entry history
Entry creation05-Nov-2013
Last entry update30-Jan-2024
Version number17