• Mutation; HGNC; HGNC:4006; FUCA1; Simple; p.Gln286Arg (c.857A>G) (Q281R); ClinVar=VCV000000691; Zygosity=Heterozygous (from autologous cell line GM01023).
  

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Beratis N.G., Kousseff B.G., Hirschhorn K., Greene A.E., Coriell L.L.
Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.
Cytogenet. Cell Genet. 15:195-197(1975)

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=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980
Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M.
The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.
Genome Biol. 15:R37.1-R37.17(2014)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)