ID   Lis26_FXS6
AC   CVCL_Y352
SY   Lis26_FXS_6
DR   NIHhESC; NIHhESC-15-0350
DR   Wikidata; Q54902612
RX   PubMed=27690107;
CC   From: Tel-Aviv Sourasky Medical Center; Tel-Aviv; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-15-0350.
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[50-600]; ClinVar=VCV000009972; Zygosity=Hemizygous (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   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 14
//
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).
//