ID   GM20238
AC   CVCL_AY45
DR   CLO; CLO_0027844
DR   Coriell; GM20238
DR   Wikidata; Q54850860
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=GM20238).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[30]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20238).
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   44Y
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).
//