ID   GM02075
AC   CVCL_CW70
SY   GM-2075; GM02075A
DR   CLO; CLO_0032513
DR   BioSample; SAMN00807462
DR   Coriell; GM02075
DR   Wikidata; Q54837288
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8896560;
RX   PubMed=36259166;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1968; LYST; Simple; p.Ala40Glyfs*24 (c.118dupG) (c.118_119insG); ClinVar=VCV000003810; Zygosity=Heterozygous (PubMed=8896560).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y6M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 11
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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).
//
RX   PubMed=36259166; DOI=10.1111/ped.15390;
RA   Oh S., Niwa A., Nagahashi A., Asaka I., Nakahata T., Saito M.K.;
RT   "iPS cells from Chediak-Higashi syndrome patients recapitulate the
RT   giant granules in myeloid cells.";
RL   Pediatr. Int. 64:e15390.1-e15390.11(2022).
//