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Cellosaurus RG-214 (CVCL_B634)

[Text version]
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; 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

PubMed=24289922; DOI=10.1016/j.molcel.2013.10.029
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
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
ISCR; 430
SKIP; SKIP002215
Encyclopedic resources Wikidata; Q54949990
Entry history
Entry creation06-Jun-2012
Last entry update29-Jun-2023
Version number15