title: Derivation of FSHD1 affected human embryonic stem cell line Genea049.
abstract: The Genea049 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 5 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, 90% of cells expressed Nanog, 96% Oct4, 80% Tra1-60 and 99% SSEA4, gave a Pluritest Pluripotency score of 23.16, Novelty of 1.43 and demonstrated Alkaline Phosphatase activity. 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: Omar
authors.initials: O
authors.lastname: Chami
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: D002460:Cell Line; D065150:Cellular Reprogramming; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D059785:Karyotype; D008840:Microfilament Proteins; D018895:Microsatellite Repeats / Q000235:genetics; D008856:Microscopy, Fluorescence; D009136:Muscular Dystrophies / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D016601:RNA-Binding Proteins; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C101270:FRG1 protein, human; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D014157:Transcription Factors