Cellosaurus logo
expasy logo

Cellosaurus GM03365 (CVCL_CW76)

[Text version]
Cell line name GM03365
Accession CVCL_CW76
Resource Identification Initiative To cite this cell line use: GM03365 (RRID:CVCL_CW76)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1968; LYST; Simple; p.Arg1104Ter (c.3310C>T); ClinVar=VCV000003809; Zygosity=Homozygous (PubMed=8896560).
Disease Chediak-Higashi syndrome (NCIt: C2941)
Chediak-Higashi syndrome (ORDO: Orphanet_167)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=8896560; DOI=10.1038/ng1196-307
Nagle D.L., Karim M.A., Woolf E.A., Holmgren L., Bork P., Misumi D.J., McGrail S.H., Dussault B.J. Jr., Perou C.M., Boissy R.E., Duyk G.M., Spritz R.A., Moore K.J.
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
Nat. Genet. 14:307-311(1996)

Cross-references
Cell line collections (Providers) Coriell; GM03365
Cell line databases/resources CLO; CLO_0016664
Biological sample resources BioSample; SAMN00808371
Encyclopedic resources Wikidata; Q54838027
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number10