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Cellosaurus GM09074 (CVCL_AU47)

[Text version]
Cell line name GM09074
Accession CVCL_AU47
Resource Identification Initiative To cite this cell line use: GM09074 (RRID:CVCL_AU47)
Comments Population: Caucasian; Acadian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12597; USH1C; Simple; p.Val72Glufs*65 (c.216G>A) (p.Val72Val); ClinVar=VCV000005143; Zygosity=Homozygous; Note=New splice site creation (from familial inference of GM09070; GM09072).
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 Female
Age at sampling 28Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
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; GM09074
Cell line databases/resources CLO; CLO_0010815
Biological sample resources BioSample; SAMN00798507
Encyclopedic resources Wikidata; Q54843557
Entry history
Entry creation02-May-2016
Last entry update02-May-2024
Version number12