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Series GSE53391 Query DataSets for GSE53391
Status Public on Dec 18, 2013
Title Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function
Organism Homo sapiens
Experiment type Non-coding RNA profiling by high throughput sequencing
Summary We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing
Overall design Identification and biochemical characterization of mutant CLP1 in human patients
Contributor(s) Martinez J, Tuschl T
Citation(s) 24766809
Submission date Dec 17, 2013
Last update date Jul 04, 2020
Contact name Miguel Brown
Organization name The Rockefeller University
Street address 1230 York Ave Box 186
City New York
State/province New York
ZIP/Postal code 10065
Country USA
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (4)
GSM1290723 healthy parent T1, wild-type CLP1
GSM1290724 healthy parent T2, wild-type CLP1
GSM1290725 child patient T3 (microcephaly), mutation CLP1 R140H
BioProject PRJNA231905
SRA SRP034547

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE53391_RAW.tar 6.4 Mb (http)(custom) TAR (of TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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