ID   GM05847
AC   CVCL_AX82
DR   CLO; CLO_0024703
DR   Coriell; GM05847
DR   Wikidata; Q54841958
RX   CelloPub=CLPUB00447;
RX   PubMed=25776194;
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[21]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[650]; ClinVar=VCV000009972; Zygosity=Heterozygous (PubMed=25776194).
CC   Discontinued: Coriell; GM05847; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 9
//
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=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).
//