title: Derivation of FSHD1 affected human embryonic stem cell line Genea050.
abstract: The Genea050 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, XY and STR analysis demonstrated a male Allele pattern. The hESC line had pluripotent cell morphology, 92% of cells expressed Nanog, 97% Oct4, 79% Tra1-60 and 99% SSEA4, gave a Pluritest Pluripotency score of 25.45, Novelty of 1.45 demonstrated Alkaline Phosphatase activity and tri-lineage teratoma formation. 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: Heather
authors.initials: H
authors.lastname: Main
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: D000818:Animals; D002478:Cells, Cultured; D055028:Comparative Genomic Hybridization; D004622:Embryo, Mammalian / Q000166:cytology; D017353:Gene Deletion; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D006801:Humans; D059785:Karyotype; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats / Q000235:genetics; D008856:Microscopy, Fluorescence; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology*; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000378:metabolism; D014183:Transplantation, Heterologous
chemical_list: D014157:Transcription Factors