ID   GM20243
AC   CVCL_AY50
DR   CLO; CLO_0027843
DR   Coriell; GM20243
DR   Wikidata; Q54850865
RX   PubMed=18165276;
RX   PubMed=25776194;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[29]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[41]; ClinVar=VCV000009972; Zygosity=Heterozygous (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   Female
AG   24Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 10
//
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).
//