ID   GM06891
AC   CVCL_AX89
DR   CLO; CLO_0036489
DR   Coriell; GM06891
DR   Wikidata; Q54842370
RX   CelloPub=CLPUB00447;
RX   PubMed=18165276;
RX   PubMed=25776194;
RX   PubMed=33426406;
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[100-117]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
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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).
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RX   PubMed=18165276; DOI=10.2353/jmoldx.2008.070105; PMCID=PMC2175538;
RA   Wilson J.A., Pratt V.M., Phansalkar A., Muralidharan K.,
RA   Highsmith W.E. Jr., Beck J.C., Bridgeman S., Courtney E.M., Epp L.,
RA   Ferreira-Gonzalez A., Hjelm N.L., Holtegaard L.M., Jama M.A.,
RA   Jakupciak J.P., Johnson M.A., Labrousse P., Lyon E., Prior T.W.,
RA   Richards C.S., Richie K.L., Roa B.B., Rohlfs E.M., Sellers T.,
RA   Sherman S.L., Siegrist K.A., Silverman L.M., Wiszniewska J.,
RA   Kalman L.V.;
RG   Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee;
RT   "Consensus characterization of 16 FMR1 reference materials: a
RT   consortium study.";
RL   J. Mol. Diagn. 10:2-12(2008).
//
RX   PubMed=25776194; DOI=10.1016/j.jmoldx.2014.12.005;
RA   Lim G.X.-Y., Loo Y.-L., Mundhofir F.E.P., Cayami F.K., Faradz S.M.H.,
RA   Rajan-Babu I.-S., Chong S.S., Koh Y.Y., Guan M.;
RT   "Validation of a commercially available screening tool for the rapid
RT   identification of CGG trinucleotide repeat expansions in FMR1.";
RL   J. Mol. Diagn. 17:302-314(2015).
//
RX   PubMed=33426406; DOI=10.1016/j.ncrna.2020.11.006; PMCID=PMC7781359;
RA   Dolskiy A.A., Yarushkin A.A., Grishchenko I.V., Lemskaya N.A.,
RA   Pindyurin A.V., Boldyreva L.V., Pustylnyak V.O., Yudkin D.V.;
RT   "miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy
RT   pathogenesis.";
RL   Noncoding RNA Res. 6:1-7(2021).
//