ID   GM20239
AC   CVCL_AY46
DR   CLO; CLO_0027847
DR   Coriell; GM20239
DR   Wikidata; Q54850861
RX   PubMed=18165276;
RX   PubMed=25776194;
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[20]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[183-193]; 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   42Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//
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).
//