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

PubMed=1192845; DOI=10.1159/000130518
Nicholas G. Beratis, Boris Giorgiev Kousseff, Kurt Hirschhorn, Arthur E. Greene, Lewis Lemon Coriell;
Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.
Cytogenet. Cell Genet. 15:195-197(1975)

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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)

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Lisanne Morcos, Bing Ge, Vonda Koka, Kevin C.L. Lam, Dmitry K. Pokholok, Kevin L. Gunderson, Alexandre Montpetit, Dominique J. Verlaan, Tomi Pastinen;
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

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James R. Wagner, Stephan Busche, Bing Ge, Tony Kwan, Tomi Pastinen, Mathieu Blanchette;
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
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Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)