ID   SZ-FX12
AC   CVCL_YL35
SY   SZ-FX12 PGD; FX#12
DR   NIHhESC; NIHhESC-20-0448
DR   Wikidata; Q98133000
RX   PubMed=27690107;
WW   Provider; SZMC; -; https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0448.
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[150-300]; ClinVar=VCV000009972; Zygosity=Unspecified (PubMed=27690107).
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   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 9
//
RX   PubMed=27690107; DOI=10.3390/genes7100077; PMCID=PMC5083916;
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).
//