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Cellosaurus GM13672 (CVCL_7534)

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Cell line name GM13672
Synonyms S1433
Accession CVCL_7534
Resource Identification Initiative To cite this cell line use: GM13672 (RRID:CVCL_7534)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:869; ATP7A; Simple; c.1948_1949insAAGAT (ataagAT>ataagATAAGAT junction 2091/2092); Zygosity=Hemizygous (PubMed=7977350).
Disease Menkes disease (NCIt: C75486)
Menkes disease (ORDO: Orphanet_565)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=7977350; PMCID=PMC1918324
Soma Das, Barbara Levinson, Susan Whitney, Christopher D. Vulpe, Seymour Packman, Jane Gitschier;
Diverse mutations in patients with Menkes disease often lead to exon skipping.
Am. J. Hum. Genet. 55:883-889(1994)

Cross-references
Cell line collections (Providers) Coriell; GM13672
Cell line databases/resources CLO; CLO_0032695
Encyclopedic resources Wikidata; Q54846707
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number15