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Cellosaurus GM13669 (CVCL_1L35)

[Text version]
Cell line name GM13669
Synonyms S1190
Accession CVCL_1L35
Resource Identification Initiative To cite this cell line use: GM13669 (RRID:CVCL_1L35)
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; Unexplicit; IVS8DS+2,T>C; Zygosity=Hemizygous; Note=Exon skipping mutation (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
Das S., Levinson B., Whitney S., Vulpe C.D., Packman S., Gitschier J.
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; GM13669
Cell line databases/resources CLO; CLO_0032692
Encyclopedic resources Wikidata; Q54846704
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13