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Cellosaurus GM02894 (CVCL_F604)

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Cell line name GM02894
Synonyms GM 2894; GM2894
Accession CVCL_F604
Resource Identification Initiative To cite this cell line use: GM02894 (RRID:CVCL_F604)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; Zygosity=Homozygous (PubMed=9792862).
Disease Nephropathic cystinosis (NCIt: C129932)
Nephropathic infantile cystinosis (ORDO: Orphanet_411629)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9Y
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=9792862; DOI=10.1086/302118; PMCID=PMC1377545
Vorasuk Shotelersuk, David Larson, Yair Anikster, Geraldine McDowell, Rosemary Lemons, Isa Bernardini, Juan-Ru Guo, Jess Thoene, William A. Gahl;
CTNS mutations in an American-based population of cystinosis patients.
Am. J. Hum. Genet. 63:1352-1362(1998)

Cross-references
Cell line collections (Providers) Coriell; GM02894
Cell line databases/resources CLO; CLO_0012809
Encyclopedic resources Wikidata; Q54837742
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number18