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Article

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.

Cell stem cell - 1 Nov 2007

Eiges Rachel, Urbach Achia, Malcov Mira, Frumkin Tsvia, Schwartz Tamar, Amit Ami, Yaron Yuval, Eden Amir, Yanuka Ofra, Benvenisty Nissim, Ben-Yosef Dalit

Abstract excerpt

We report on the establishment of a human embryonic stem cell (HESC) line from a preimplantation fragile X-affected embryo and demonstrate its value as an appropriate model to study developmentally regulated events that are involved in the pathogenesis of this disorder. Fragile X syndrome results from FMR1 gene inactivation due to a CGG expansion at the 5'UTR region of the gene. Early events in FMR1 silencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18371394
DOI: 10.1016/j.stem.2007.09.001

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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