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Cellosaurus GM08962 (CVCL_AL34)

[Text version]
Cell line name GM08962
Accession CVCL_AL34
Resource Identification Initiative To cite this cell line use: GM08962 (RRID:CVCL_AL34)
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 (PubMed=10391211; Coriell=GM08962).
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 40Y
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=10391211; DOI=10.1038/10305
Pierce E.A., Quinn T., Meehan T., McGee T.L., Berson E.L., Dryja T.P.
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
Nat. Genet. 22:248-254(1999)

Cross-references
Cell line collections (Providers) Coriell; GM08962
Cell line databases/resources CLO; CLO_0011083
Biological sample resources BioSample; SAMN00798328
Encyclopedic resources Wikidata; Q54843445
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number13