• Mutation; HGNC; HGNC:1968; LYST; Simple; p.Ala40Glyfs*24 (c.118dupG) (c.118_119insG); ClinVar=VCV000003810; Zygosity=Heterozygous (PubMed=8896560).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

PubMed=36259166; DOI=10.1111/ped.15390
Oh S., Niwa A., Nagahashi A., Asaka I., Nakahata T., Saito M.K.
iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Pediatr. Int. 64:e15390.1-e15390.11(2022)