Cellosaurus logo
expasy logo

Cellosaurus GM24589 (CVCL_AZ38)

[Text][XML][JSON]
Cell line name GM24589
Accession CVCL_AZ38
Resource Identification Initiative To cite this cell line use: GM24589 (RRID:CVCL_AZ38)
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:17416; ADGRV1; Simple; p.Ser2934Ter (c.8801C>A); ClinVar=VCV003376959; Zygosity=Heterozygous (Coriell=GM24589).
  • Mutation; HGNC; HGNC:17416; ADGRV1; Simple; c.14973-2A>G; ClinVar=VCV000046275; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM24589).
Disease Usher syndrome type 2C (NCIt: C153174)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24589
Encyclopedic resources Wikidata; Q54853790
Entry history
Entry creation02-May-2016
Last entry update27-Nov-2025
Version number14