ID   GM20236
AC   CVCL_AY43
DR   CLO; CLO_0027848
DR   Coriell; GM20236
DR   Wikidata; Q54850858
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[31]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[53]; 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   25Y
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;
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.;
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).
//