Cellosaurus cell line GM08993 (CVCL

Cellosaurus GM08993 (CVCL_AL63)

Cross-references
Cell line name	GM08993
Synonyms	GM08993A
Accession	CVCL_AL63
Resource Identification Initiative	To cite this cell line use: GM08993 (RRID:CVCL_AL63)
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; HGNC:10263; RP1; Simple; p.Arg677Ter (c.2029C>T); ClinVar=VCV000005965; Zygosity=Heterozygous (PubMed=10391211; Coriell=GM08993).
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	51Y
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.F., 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)
Cell line collections (Providers)	Coriell; GM08993
Cell line databases/resources	CLO; CLO_0011113
Biological sample resources	BioSample; SAMN00798389
Encyclopedic resources	Wikidata; Q54843474
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	14