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| 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).
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| 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.
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| Contributor(s) |
Kadener S, Eiges R |
| Citation(s) |
27773700 |
| |
| Submission date |
Sep 22, 2016 |
| Last update date |
May 15, 2019 |
| Contact name |
Sebastian Kadener |
| E-mail(s) |
[email protected]
|
| Organization name |
Brandeis University
|
| Street address |
415 South Street
|
| City |
Waltham |
| State/province |
MA |
| ZIP/Postal code |
9190401 |
| Country |
USA |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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| Samples (9)
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| Relations |
| BioProject |
PRJNA343952 |
| SRA |
SRP090319 |
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