Table 1.

Fragile X syndrome (FXS) Human embryonic stem cell lines.

Cell Line	Karyotype	Number of CGG Repeat	Methylation State	Derivation Center
SI-214	46, XY	138, 450	mostly methylated	RGI [40]
Lis01_HEFX1	46, XY	200–650	unmethylated	TASMC [27]
HAD5	46, XX	300	NA	HHUMC [41]
VUB11_FXS	46, XX	2000, 2010	fully methylated	VUB [42]
VUB13_FXS	46, XX	2000	fully methylated	VUB [42]
STR-189-FRAXA	46, XX	NA	NA	IGBMC [43]
STR-233-FRAXA	46, XY	NA	NA	IGBMC [43]
Lis26_FXS_6	46, XY	50–600	partially methyalted	TASMC [44]
WCMC37	46, XY	142, 167, 179, 450	mostly methylated	WCMC, [45]
SZ-FX1	46, XX	300–600	mostly methyalted	SZMC [32]
SZ-FX3	46, XX	300–600	partially methyalted	SZMC [32]
SZ-FX6	46, XY	200–600	partially methyalted	SZMC [32]
SZ-FX7	46, XX	200–300	unmethylated	SZMC [32]
SZ-FX8	46, XY	200–600	mostly methyalted	SZMC [32]
SZ-FX12	46, XX	150–300	partially methyalted	SZMC [32]
SZ-FX14	46, XY	290–600	mostly methyalted	SZMC [32]

Sixteen different embryonic stem cell lines were established from human embryos with a full mutation (>200 repeats) in the fragile X mental retardation 1 (FMR1) gene. The embryos were obtained from premutation female carriers through a preimplantation genetic diagnosis (PGD) procedure. The number of CGG repeats and the methylation status of the FMR1 gene were determined at the time of derivation by various methodologies, and may have changed during in vitro culturing. NA, not available; RGI, Reproductive Genetics Institute; TASMC, Tel Aviv Sourasky Medical Center; HHUMC, Hadassah Hebrew University Medical Center; VUB, Vrije Universiteit Brussel; IGBMC, Institut Génétique Biologie Moléculaire Cellulaire; WCMC, Weill Cornell Medical College; SZMC, Shaare Zedek Medical Center.