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Cellosaurus GM09458 (CVCL_W309)

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Cell line name GM09458
Accession CVCL_W309
Resource Identification Initiative To cite this cell line use: GM09458 (RRID:CVCL_W309)
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 19Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Jennifer Lentz, Sevtap Savas, San-San Ng, Grace Athas, Prescott L. Deininger, Bronya J.B. Keats;
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; GM09458
Cell line databases/resources CLO; CLO_0011593
Encyclopedic resources Wikidata; Q54843766
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number16