ID   GM20231
AC   CVCL_AY38
DR   CLO; CLO_0027969
DR   Coriell; GM20231
DR   Wikidata; Q54850853
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[76]; 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   36Y
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).
//