ID   GM00107
AC   CVCL_0P99
SY   GM-107; GM0107; WG0464
DR   CLO; CLO_0025822
DR   Coriell; GM00107
DR   Wikidata; Q54836041
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=29982630;
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Trp162Ter (c.485G>A); ClinVar=VCV000196226; Zygosity=Hemizygous (PubMed=29982630).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 13
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=29982630; DOI=10.1093/hmg/ddy248; PMCID=PMC6140777;
RA   Welford R.W.D., Muhlemann A., Garzotti M., Rickert V., Groenen P.M.A.,
RA   Morand O.H., Uceyler N., Probst M.R.;
RT   "Glucosylceramide synthase inhibition with lucerastat lowers
RT   globotriaosylceramide and lysosome staining in cultured fibroblasts
RT   from Fabry patients with different mutation types.";
RL   Hum. Mol. Genet. 27:3392-3403(2018).
//