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Cellosaurus GM09070 (CVCL_AU43)

[Text version]
Cell line name GM09070
Accession CVCL_AU43
Resource Identification Initiative To cite this cell line use: GM09070 (RRID:CVCL_AU43)
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; HGNC:12597; USH1C; Simple; p.Val72Glufs*65 (c.216G>A) (p.Val72Val); ClinVar=VCV000005143; Zygosity=Homozygous; Note=New splice site creation (PubMed=15578223).
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 21Y
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)

PubMed=15578223; DOI=10.1007/s00439-004-1217-4
Lentz J., Savas S., Ng S.-S., Athas G., Deininger P.L., Keats B.J.B.
The USH1C 216G->A splice-site mutation results in a 35-base-pair deletion.
Hum. Genet. 116:225-227(2005)

Cross-references
Cell line collections (Providers) Coriell; GM09070
Cell line databases/resources CLO; CLO_0010804
Biological sample resources BioSample; SAMN00798499
Encyclopedic resources Wikidata; Q54843553
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12