ID   Lis01_HEFX
AC   CVCL_B923
DR   NIHhESC; NIHhESC-15-0329
DR   Wikidata; Q54902587
RX   PubMed=20186514;
RX   PubMed=21585244;
RX   PubMed=27690107;
CC   From: Tel-Aviv Sourasky Medical Center; Tel-Aviv; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-15-0329.
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[180]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=21585244).
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: 19-12-24; Version: 21
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RX   PubMed=20186514; DOI=10.1007/s11626-010-9275-5;
RA   Frumkin T., Malcov M., Telias M., Gold V., Schwartz T., Azem F.,
RA   Amit A., Yaron Y., Ben-Yosef D.;
RT   "Human embryonic stem cells carrying mutations for severe genetic
RT   disorders.";
RL   In Vitro Cell. Dev. Biol. Anim. 46:327-336(2010).
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RX   PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241;
RA   Ben-Yosef D., Amit A., Malcov M., Frumkin T., Ben-Yehudah A.,
RA   Eldar I., Mey-Raz N., Azem F., Altarescu G., Renbaum P., Beeri R.,
RA   Varshaver I., Eldar-Geva T., Epsztejn-Litman S., Levy-Lahad E.,
RA   Eiges R.;
RT   "Female sex bias in human embryonic stem cell lines.";
RL   Stem Cells Dev. 21:363-372(2012).
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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).
//