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; 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: 19-12-24; Version: 12
CH   CVCL_C4NZ ! CIRA00153-18
CH   CVCL_C4P0 ! CIRA00153-9
//
RX   PubMed=8896560; DOI=10.1038/ng1196-307;
RA   Nagle, Deborah L.
RA   Karim, Mohammad A.
RA   Woolf, Elizabeth A.
RA   Holmgren, Lisa
RA   Bork, Peer
RA   Misumi, Donald J.
RA   McGrail, Sonja H.
RA   Dussault, Barry J. Jr.
RA   Perou, Charles M.
RA   Boissy, Raymond E.
RA   Duyk, Geoffrey M.
RA   Spritz, Richard A.
RA   Moore, Karen J.
RT   "Identification and mutation analysis of the complete gene for
RT   Chediak-Higashi syndrome.";
RL   Nat. Genet. 14:307-311(1996).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=36259166; DOI=10.1111/ped.15390;
RA   Oh, Shigeharu
RA   Niwa, Akira
RA   Nagahashi, Ayako
RA   Asaka, Isao
RA   Nakahata, Tatsutoshi
RA   Saito, Megumu 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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//