biostudies-arrayexpressBilal MalikHomo sapienshttps://www.ebi.ac.uk/biostudies/studies/E-MTAB-15765Characterise the molecular pathogenesis of androgen receptor spinal and bulbar muscular atrop (SBMA) causing repeat expansion mutations in human motor neurons generated from patient-specific spinal cord motor neurons from induced pluripotent stem cells and performed time-resolved analysis of transcriptomes at key stages of motor neurogenesis. 4 Healthy Controls and 4 SBMA Patient samples analysed at 5 different developemntal stages: iPSCs (d0), post neural induction (d7), post patterning to the pMN domain (d14), post-mitotic but immature iPSC-MNs (d21) and 10 days post-mitotic iPSC-MNs (d28biostudies-arrayexpressSample Collection - Cells underwent neural induction of 7 days with chemically defined medium containing 1μM Dorsomorphin (Millipore), 2μM SB431542 (Tocris Bioscience) and 3.3μM CHIR99021 (Miltenyi Biotec), patterning with 0.5μM retinoic acid and 1μM purmorphamine for 7 days with a 4 day expansion in 0.1μM purmorphamine and finally plated out for terminal differentiation in the presence of compound EGrowth Protocol - iPSCs were maintained on Matrigel (Corning Life Sciences) with Essential 8 Medium media (Life technologies), cells were passaged using EDTA (Life technologies, 0.5mM).Sequencing - RNA-seq: Multiplexed 100 bp paired-end libraries were run using an Illumina HiSeq 4000 sequencer with 40 million reads per sample Performed UCL GenomicsNucleic Acid Extraction - RNA extraction was performed using the Promega Maxwell RSC simplyRNA kit (including DNAase treatment) and the Maxwell RSC instrumentLibrary Construction - mRNA-Seq libraries were prepared using the polyA_KAPA_mRNA_Hyper_Prep kit (Roche, UK)OrganizationMINSEQE ScoreAssays and DataProcessed DataMAGE-TAB FilesSequence Alignment - Fastq files were aligned to the human reference genome assembly GR Ch38 using STARData Transformation - Differential gene expression was evaluated using DESeq2 was used, which applies a generalised linear model to normalise the gene counts and determines significant genes using a false discovery rate and an adjusted p-value of <0.05.MetabolomicsUnknownTranscriptomicsGenomicsProteomicsIllumina HiSeq 4000RNA-seq of coding RNAHomo sapiensConserved Aberrant Developmental Trajectories of Human and Mouse SBMA Motor NeuronsHelen Devine, Martha J Roberts, Oliver J Ziff, Michael G Hanna, Linda Greensmith, Rickie Patani, Bilal MalikBilal MalikfalseTranscriptional profiling of iPSC derived motor neurons from spinal and bulbar muscular atrophy patients at key stages motor neurogenesisCharacterise the molecular pathogenesis of androgen receptor spinal and bulbar muscular atrop (SBMA) causing repeat expansion mutations in human motor neurons generated from patient-specific spinal cord motor neurons from induced pluripotent stem cells and performed time-resolved analysis of transcriptomes at key stages of motor neurogenesis. 4 Healthy Controls and 4 SBMA Patient samples analysed at 5 different developemntal stages: iPSCs (d0), post neural induction (d7), post patterning to the pMN domain (d14), post-mitotic but immature iPSC-MNs (d21) and 10 days post-mitotic iPSC-MNs (d282026-08-01T00:00:00Z2026-08-01T01:01:04.305Z2025-10-17T14:19:05.927ZE-MTAB-15765ERP182422EFO_0002944EFO_0004170EFO_0003789EFO_0004917EFO_0005518EFO_0003816EFO_0003738EFO_0004184bioRxiv 2025.09.17.674754: doi: https://doi.org/10.1101/2025.09.17.674754