Cellosaurus cell line GM03365 (CVCL

Cellosaurus GM03365 (CVCL_CW76)

Cross-references
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; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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)
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 creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	11