Cellosaurus cell line GM07862 (CVCL

Cross-references
Cell line name	GM07862
Accession	CVCL_AY26
Resource Identification Initiative	To cite this cell line use: GM07862 (RRID:CVCL_AY26)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: Established from monozygotic twin of GM07861 (Cellosaurus=CVCL_AY25). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[501-550]; 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=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; GM07862
Cell line databases/resources	CLO; CLO_0010299
Encyclopedic resources	Wikidata; Q54842975
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	14