ID   GM04025
AC   CVCL_1N28
SY   GM4025B; GM04025C; GM04025E
DR   CLO; CLO_0016229
DR   Coriell; GM04025
DR   Wikidata; Q54838374
RX   CelloPub=CLPUB00447;
RX   PubMed=1672039;
RX   PubMed=25776194;
RX   PubMed=33426406;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[645]; 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.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1N27 ! GM04024
SX   Male
AG   29Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 15
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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=1672039; DOI=10.1038/349624a0;
RA   Vincent A., Heitz D., Petit C., Kretz C., Oberle I., Mandel J.-L.;
RT   "Abnormal pattern detected in fragile-X patients by pulsed-field gel
RT   electrophoresis.";
RL   Nature 349:624-626(1991).
//
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=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).
//