ID   GM20240
AC   CVCL_AY47
DR   CLO; CLO_0027846
DR   Coriell; GM20240
DR   Wikidata; Q54850862
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[20]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[80]; 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   38Y
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).
//