Cellosaurus cell line RG-214 (CVCL

Cross-references
Cell line name	RG-214
Synonyms	SI-214; RGIe116-A
Accession	CVCL_B634
Resource Identification Initiative	To cite this cell line use: RG-214 (RRID:CVCL_B634)
Comments	From: Reproductive Genetics Institute; Chicago; USA. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[138-450]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=24289922).
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	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=24289922; DOI=10.1016/j.molcel.2013.10.029; PMCID=PMC3920742 Gerhardt J., Tomishima M.J., Zaninovic N., Colak D., Yan Z., Zhan Q.-S., Rosenwaks Z., Jaffrey S.R., Schildkraut C.L. The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells. Mol. Cell 53:19-31(2014) PubMed=27690107; DOI=10.3390/genes7100077; PMCID=PMC5083916 Mor-Shaked H., Eiges R. Modeling fragile X syndrome using human pluripotent stem cells. Genes (Basel) 7:77.1-77.19(2016)
Cell line databases/resources	hPSCreg; RGIe116-A SKIP; SKIP002215
Encyclopedic resources	Wikidata; Q54949990
Entry history
Entry creation	06-Jun-2012
Last entry update	19-Dec-2024
Version number	17