ID   GM03365
AC   CVCL_CW76
DR   CLO; CLO_0016664
DR   BioSample; SAMN00808371
DR   Coriell; GM03365
DR   Wikidata; Q54838027
RX   CelloPub=CLPUB00447;
RX   PubMed=8896560;
CC   Sequence variation: Mutation; HGNC; 1968; LYST; Simple; p.Arg1104Ter (c.3310C>T); ClinVar=VCV000003809; Zygosity=Homozygous (PubMed=8896560).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=8896560; DOI=10.1038/ng1196-307;
RA   Nagle D.L., Karim M.A., Woolf E.A., Holmgren L., Bork P., Misumi D.J.,
RA   McGrail S.H., Dussault B.J. Jr., Perou C.M., Boissy R.E., Duyk G.M.,
RA   Spritz R.A., Moore K.J.;
RT   "Identification and mutation analysis of the complete gene for
RT   Chediak-Higashi syndrome.";
RL   Nat. Genet. 14:307-311(1996).
//