ID   RG-214
AC   CVCL_B634
SY   SI-214; RGIe116-A
DR   hPSCreg; RGIe116-A
DR   ISCR; 430
DR   SKIP; SKIP002215
DR   Wikidata; Q54949990
RX   PubMed=24289922;
RX   PubMed=27690107;
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[138-450]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=24289922).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 15
//
RX   PubMed=24289922; DOI=10.1016/j.molcel.2013.10.029;
RA   Gerhardt J., Tomishima M.J., Zaninovic N., Colak D., Yan Z., Zhan Q.-S.,
RA   Rosenwaks Z., Jaffrey S.R., Schildkraut C.L.;
RT   "The DNA replication program is altered at the FMR1 locus in fragile X
RT   embryonic stem cells.";
RL   Mol. Cell 53:19-31(2014).
//
RX   PubMed=27690107; DOI=10.3390/genes7100077;
RA   Mor-Shaked H., Eiges R.;
RT   "Modeling fragile X syndrome using human pluripotent stem cells.";
RL   Genes (Basel) 7:77.1-77.19(2016).
//