ID   WC024i-FXS-Nluc1
AC   CVCL_UA51
SY   FX-iPSC-Nluc1
DR   WiCell; wc024i-fxs-nluc1
DR   Wikidata; Q98134811
RX   PubMed=27422057;
CC   Characteristics: CRISPR/Cas9-mediated knock-in of a P2A-NanoLuc construct at the C-terminal end of FMR1.
CC   Characteristics: Reporter cell line to detect FMR1 gene reactivation in human neural cells and can be a valuable resource to identify novel compounds for FMR1 gene reactivation studies (WiCell=wc024i-fxs-nluc1).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[>435]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=27422057).
CC   Genetic integration: Method=Transfection/transduction; Gene=NanoLuc (Note=19 kDa ATP-independent bright luminescent protein derived from O.gracilirostris).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EJ78 ! WC007i-FX13-2
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 10-09-24; Version: 12
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RX   PubMed=27422057; DOI=10.1002/stem.2463; PMCID=PMC5195860;
RA   Li M., Zhao H.-S., Ananiev G.E., Musser M.T., Ness K.H., Maglaque D.L.,
RA   Saha K., Bhattacharyya A., Zhao X.-Y.;
RT   "Establishment of reporter lines for detecting fragile X mental
RT   retardation (FMR1) gene reactivation in human neural cells.";
RL   Stem Cells 35:158-169(2017).
//