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Cellosaurus GM10530 (CVCL_AM45)

[Text version]
Cell line name GM10530
Synonyms GM10530B
Accession CVCL_AM45
Resource Identification Initiative To cite this cell line use: GM10530 (RRID:CVCL_AM45)
Comments Part of: Retinitis Pigmentosa Foundation Collection.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10263; RP1; Simple; p.Arg677Ter (c.2029C>T); ClinVar=VCV000005965; Zygosity=Heterozygous (Coriell=GM10530).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 70Y
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; GM10530
Cell line databases/resources CLO; CLO_0024258
Biological sample resources BioSample; SAMN00800069
Encyclopedic resources Wikidata; Q54844527
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number14