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Series GSE87273 Query DataSets for GSE87273
Status Public on Oct 09, 2016
Title C9/ALS Human Embryonic Stem Cells and C9/ALS Induced Pluripotent Stem Cells
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary We established two HESC lines with a C9 mutation (SZ-ALS1, SZ-ALS3) from embryos, which were obtained through preimplantation genetic diagnosis (PGD) and donated for cell line derivation by a family in which the mother was an expansion carrier (originally diagnosed as a carrier of an expansion with >40 repeats in blood by a repeat primed PCR). In addition, we generated halo-identical and unrelated C9/ALS iPSCs from a skin biopsies of the C9 carrier mother (patient H, 30 years-old), and from an unrelated C9/ALS patient, 2 years following disease-onset (patient M, 65 years-old).
Overall design We established two HESC lines with a GGGGCC expansion in the C9orf72 gene (C9), and compared them with haplo-identical and unrelated C9 iPSCs.
Contributor(s) Kadener S, Eiges R
Citation(s) 27773700
Submission date Sep 22, 2016
Last update date May 15, 2019
Contact name Sebastian Kadener
Organization name Brandeis University
Street address 415 South Street
City Waltham
State/province MA
ZIP/Postal code 9190401
Country USA
Platforms (1)
GPL18573 Illumina NextSeq 500 (Homo sapiens)
Samples (9)
GSM2326710 ALS HESCs rep1
GSM2326711 ALS HESCs rep2
GSM2326712 Wild type HESCs
BioProject PRJNA343952
SRA SRP090319

Download family Format
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE87273_C9orf72_coverage.bed.txt.gz 340 b (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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