ID   GM06895
AC   CVCL_F299
SY   GM06895A; GM17269
DR   CLO; CLO_0013176
DR   CLO; CLO_0036487
DR   Coriell; GM06895
DR   Coriell; GM17269
DR   GEO; GSM569727
DR   GEO; GSM596333
DR   GEO; GSM596755
DR   GEO; GSM924871
DR   Wikidata; Q54842375
RX   CelloPub=CLPUB00447;
RX   PubMed=20889555;
RX   PubMed=25776194;
RX   PubMed=29959025;
RX   PubMed=33426406;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   HLA typing: A*02:01:01,26:01:01; B*40:01:02,40:02:01; C*02:02:02,03:04:01; DPA1*01:03:01,02:06; DPB1*02:01:02,05:01:01; DQA1*01:02:01,01:03:01; DQB1*06:03:01,06:04:01; DRB1*13:01:01,13:02:01; DRB3*02:02:01,03:01:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[23]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 19
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=20889555; DOI=10.2353/jmoldx.2010.100090;
RA   Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N.,
RA   Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M.,
RA   Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J.,
RA   Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H.,
RA   Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B.,
RA   Yeo K.-T.J., Zeller M., Kalman L.V.;
RT   "Characterization of 107 genomic DNA reference materials for CYP2D6,
RT   CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for
RT   Molecular Pathology collaborative project.";
RL   J. Mol. Diagn. 12:835-846(2010).
//
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).
//
RX   PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009;
RA   Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N.,
RA   Jennings L., Kalman L.V., Monos D.S.;
RT   "Characterization of 108 genomic DNA reference materials for 11 human
RT   leukocyte antigen loci: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 20:703-715(2018).
//
RX   PubMed=33426406; DOI=10.1016/j.ncrna.2020.11.006;
RA   Dolskiy A.A., Yarushkin A.A., Grishchenko I.V., Lemskaya N.A.,
RA   Pindyurin A.V., Boldyreva L.V., Pustylnyak V.O., Yudkin D.V.;
RT   "miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy
RT   pathogenesis.";
RL   Noncoding RNA Res. 6:1-7(2021).
//