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Cellosaurus GM02050 (CVCL_W641)

[Text version]
Cell line name GM02050
Synonyms GM-2050
Accession CVCL_W641
Resource Identification Initiative To cite this cell line use: GM02050 (RRID:CVCL_W641)
Comments Population: Arab.
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.His72Leu (c.215A>T) (H71L); ClinVar=VCV000001684; Zygosity=Homozygous (Coriell=GM02050).
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 11Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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; GM02050
Cell line databases/resources CLO; CLO_0032551
Biological sample resources BioSample; SAMN00807430
Encyclopedic resources Wikidata; Q54837266
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number16