title: Derivation of FSHD1 affected human embryonic stem cell line Genea096.
abstract: The Genea096 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 6 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 64% of cells expressed Nanog, 93% Oct4, 58% Tra1-60 and 93% SSEA4 and a Pluritest Pluripotency score of 39.41, Novelty of 1.25. The cell line was negative for Mycoplasma and visible contamination.
authors.affiliation: Genea Biocells, Sydney, Australia. Electronic address: biljana.dumevska@geneabiocells.com.
authors.forename: Biljana
authors.initials: B
authors.lastname: Dumevska
authors.affiliation: Genea Biocells, Sydney, Australia.
authors.forename: Julia
authors.initials: J
authors.lastname: Schaft
authors.affiliation: Genea Biocells, Sydney, Australia.
authors.forename: Robert
authors.initials: R
authors.lastname: McKernan
authors.affiliation: Genea Biocells, Sydney, Australia.
authors.forename: Divya
authors.initials: D
authors.lastname: Goel
authors.affiliation: Genea Biocells, Sydney, Australia.
authors.forename: Uli
authors.initials: U
authors.lastname: Schmidt
mesh_terms: D000483:Alleles; D001755:Blastocyst / Q000166:cytology; D002478:Cells, Cultured; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D059785:Karyotype; D018895:Microsatellite Repeats / Q000235:genetics; D008856:Microscopy, Fluorescence; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology*; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D014157:Transcription Factors