ID   HAD5
AC   CVCL_C076
SY   HAD 5; HADe005-A
DR   BioSamples; SAMEA6621223
DR   hPSCreg; HADe005-A
DR   ISCR; 221
DR   SKIP; SKIP001857
DR   Wikidata; Q54872334
RX   PubMed=17989069;
RX   PubMed=27690107;
CC   From: Hadassah Hebrew University Medical Center; Jerusalem; Israel.
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[300]; ClinVar=VCV000009972; Zygosity=Unspecified (PubMed=27690107).
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 20-05-21; Version: 13
//
RX   PubMed=17989069; DOI=10.1093/humrep/dem351;
RA   Turetsky T., Aizenman E., Gil Y., Weinberg N., Shufaro Y., Revel A.,
RA   Laufer N., Simon A., Abeliovich D., Reubinoff B.E.;
RT   "Laser-assisted derivation of human embryonic stem cell lines from IVF
RT   embryos after preimplantation genetic diagnosis.";
RL   Hum. Reprod. 23:46-53(2008).
//
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).
//