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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.
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., 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 update20-May-2021
Version number13