Cellosaurus cell line GM06897 (CVCL

Cellosaurus GM06897 (CVCL_AX94)

Cross-references
Cell line name	GM06897
Synonyms	GM6897; GM06897B
Accession	CVCL_AX94
Resource Identification Initiative	To cite this cell line use: GM06897 (RRID:CVCL_AX94)
Comments	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[477]; 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	25Y
Category	Transformed cell line
Publications	PubMed=1672039; DOI=10.1038/349624a0 Anne Vincent, Dominique Heitz, Christine Petit, Christine Kretz, Isabelle Oberle, Jean-Louis Mandel; Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 349:624-626(1991) CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 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 Grace X.-Y. Lim, Yu-Ling Loo, Farmaditya E.P. Mundhofir, Ferdy K. Cayami, Sultana M.H. Faradz, Indhu-Shree Rajan-Babu, Samuel S. Chong, Yvonne Y. Koh, Ming Guan; 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; GM06897
Cell line databases/resources	CLO; CLO_0036481
Encyclopedic resources	Wikidata; Q54842377
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	12