title: Generation of sibling-matched induced pluripotent stem cell lines from spinal and bulbar muscular atrophy patients.
abstract: Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patients and their healthy siblings. The SBMA and healthy iPSC lines retain the number of AR CAG repeats, express pluripotency markers and are able to differentiate into the three germ layers. The iPSC lines are also free of Sendai virus transgenes and have normal karyotypes. The SBMA iPSC lines with their sibling-matched controls would serve as useful tools to study SBMA disease mechanism.
authors.affiliation: Genome Institute of Singapore, Singapore.
authors.forename: Gunaseelan
authors.initials: G
authors.lastname: Narayanan
authors.affiliation: Genome Institute of Singapore, Singapore.
authors.forename: Marianne
authors.initials: M
authors.lastname: Sheila
authors.affiliation: National Neuroscience Institute Singapore, Singapore.
authors.forename: Josiah
authors.initials: J
authors.lastname: Chai
authors.affiliation: Genome Institute of Singapore, Singapore. Electronic address: stantonl@gis.a-star.edu.sg.
authors.forename: Lawrence W
authors.initials: LW
authors.lastname: Stanton
mesh_terms: D000328:Adult; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D016172:DNA Fingerprinting; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000378:metabolism; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D011944:Receptors, Androgen / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D011944:Receptors, Androgen; D014157:Transcription Factors
keywords: Androgen receptor; Induced pluripotent stem cells; Spinal and bulbar muscular atrophy