Cellosaurus cell line GM06852 (CVCL

Cellosaurus GM06852 (CVCL_AX86)

Cross-references
Cell line name	GM06852
Synonyms	GM6852; GM06852A
Accession	CVCL_AX86
Resource Identification Initiative	To cite this cell line use: GM06852 (RRID:CVCL_AX86)
Comments	Population: Caucasian. 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[>200]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
Disease	Fragile X syndrome (NCIt: C84717) Fragile X syndrome (ORDO: Orphanet_908)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y
Category	Transformed cell line
Publications	PubMed=1672039; DOI=10.1038/349624a0 Vincent A., Heitz D., Petit C., Kretz C., Oberle I., Mandel J.-L. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 349:624-626(1991) 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)
Cell line collections (Providers)	Coriell; GM06852
Cell line databases/resources	CLO; CLO_0036518
Encyclopedic resources	Wikidata; Q54842346
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	13