ID   GM20235
AC   CVCL_AY42
DR   CLO; CLO_0027978
DR   Coriell; GM20235
DR   Wikidata; Q54850857
RX   PubMed=18165276;
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 (Coriell=GM20235).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[45]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20235).
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   31Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 11
//
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).
//