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; 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: 19-12-24; Version: 14
//
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   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).
//
RX   PubMed=29982630; DOI=10.1093/hmg/ddy248; PMCID=PMC6140777;
RA   Welford, Richard W.D.
RA   Muhlemann, Andreas
RA   Garzotti, Marco
RA   Rickert, Vanessa
RA   Groenen, Peter M.A.
RA   Morand, Olivier H.
RA   Uceyler, Nurcan
RA   Probst, Markus 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).
//