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Cellosaurus GM24646 (CVCL_AZ42)

[Text version]
Cell line name GM24646
Accession CVCL_AZ42
Resource Identification Initiative To cite this cell line use: GM24646 (RRID:CVCL_AZ42)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12597; USH1C; Simple; p.Arg80Profs*69 (c.238dupC) (c.238_239insC); ClinVar=VCV000005141; Zygosity=Homozygous (Coriell=GM24646).
Disease Usher syndrome type 1 (NCIt: C126327)
Usher syndrome type 1 (ORDO: Orphanet_231169)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24646
Encyclopedic resources Wikidata; Q54853819
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11