title: Derivation of NEM2 affected human embryonic stem cell line Genea080.
abstract: The Genea080 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying compound heterozygous mutations in the NEB gene, exon 55 deletion & c.15110dupA, indicative of Nemaline Myopathy Type 2 (NEM2). 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, 90% of cells expressed Nanog, 95% Oct4, 54% Tra1-60 and 99% SSEA4 and gave a PluriTest Pluripotency score of 32.08, Novelty of 1.3. 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: 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; D065150:Cellular Reprogramming; D055028:Comparative Genomic Hybridization; D005091:Exons; D005434:Flow Cytometry; D017353:Gene Deletion; D006579:Heterozygote; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D009124:Muscle Proteins / Q000235:genetics; D017696:Myopathies, Nemaline / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D009124:Muscle Proteins; D014157:Transcription Factors; C035620:nebulin