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Cellosaurus GM06968 (CVCL_AY02)

[Text version]
Cell line name GM06968
Accession CVCL_AY02
Resource Identification Initiative To cite this cell line use: GM06968 (RRID:CVCL_AY02)
Comments Population: Jewish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[23]; Zygosity=Heterozygous (PubMed=25776194).
  • Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[107]; Zygosity=Heterozygous (PubMed=25776194).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=25776194; DOI=10.1016/j.jmoldx.2014.12.005
Lim G.X.-Y., Loo Y.-L., Mundhofir F.E.P., Cayami F.K., Faradz S.M.H., Rajan-Babu I.-S., Chong S.S., Koh Y.Y., Guan M.
Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1.
J. Mol. Diagn. 17:302-314(2015)

Cross-references
Cell line collections (Providers) Coriell; GM06968
Cell line databases/resources CLO; CLO_0036452
Encyclopedic resources Wikidata; Q54842410
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12