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SRX14241730: GSM5909508: SI-NET-seq primary fibroblast WT2 R2; Homo sapiens; OTHER
1 ILLUMINA (Illumina NovaSeq 6000) run: 280.2M spots, 26.3G bases, 8.3Gb downloads

External Id: GSM5909508_r1
Submitted by: Max-Plack-Institute for Molecular Genetics
Study: A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]
PRJNA809011 • SRP360806 • All experiments • All runs
show Abstracthide Abstract
In this study, we use transcriptomic approaches, to delineate a non-coding TAPT1 mutation (c.1237-52G>A) resulting in a protein-null allele, that segregated with a congenital recessive disease recessive consisting of Osteogenesis Imperfecta (OI) and neonatal progeria. Overall design: SI-NET-seq measurements for fibroblast cells of two homzygous patients and one unrelated wildtype. Two replicate measurments for each proband.
Sample: SI-NET-seq primary fibroblast WT2 R2
SAMN26137644 • SRS12062364 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: GSM5909508
Instrument: Illumina NovaSeq 6000
Strategy: OTHER
Source: TRANSCRIPTOMIC
Selection: other
Layout: SINGLE
Construction protocol: Nascent RNA was extracted as described by Arnold et al., 2021. Libraries were constructed as described by Arnold et al., 2021 with the following modification: For reverse transcription of nascent RNAs the SuperScript IV Reverse Transcriptase (ThermoFisher) was used.
Runs: 1 run, 280.2M spots, 26.3G bases, 8.3Gb
Run# of Spots# of BasesSizePublished
SRR18090642280,201,10626.3G8.3Gb2023-01-19

ID:
20162491

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