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| Status |
Public on Nov 01, 2022 |
| Title |
Bi-allelic SNAPC4 variants lead to altered global splicing and a neurodevelopmental disorder |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
Non-coding RNA profiling by high throughput sequencing
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| Summary |
To investigate the transcriptomic effects of deleterious SNAPC4 variants, patient-derived cells and SNAPC4-deficient HeLa cells were used to generate RNA-Seq data.
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| Overall design |
Four comparisons were made: 1) PolyA-selected data from patient-derived fibroblasts against control fibroblasts, 2) PolyA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells,
3) small RNA-selected data from patient-derived fibroblasts against control fibroblasts, and 4) small RNA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells
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| Contributor(s) |
Frost G, Morimoto M |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Aug 22, 2022 |
| Last update date |
Nov 03, 2022 |
| Contact name |
May Christine V Malicdan |
| E-mail(s) |
maychristine.malicdan@nih.gov
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| Organization name |
National Institutes of Health
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| Department |
National Human Genome Research Institute
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| Lab |
Undiagnosed Diseases Program Translational Lab
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| Street address |
5625 Fisher's Ln
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| City |
Rockville |
| State/province |
MD |
| ZIP/Postal code |
20852 |
| Country |
USA |
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| Platforms (2) |
| GPL23227 |
BGISEQ-500 (Homo sapiens) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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| Samples (22)
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| GSM6502688 |
Individual 1, Skin biopsy-derived fibroblasts, polyA RNA |
| GSM6502689 |
Individual 2, Skin biopsy-derived fibroblasts, polyA RNA |
| GSM6502690 |
Individual 3, Skin biopsy-derived fibroblasts, polyA RNA |
| GSM6502691 |
Individual 4, Skin biopsy-derived fibroblasts, polyA RNA |
| GSM6502692 |
Individual 6, Skin biopsy-derived fibroblasts, polyA RNA |
| GSM6502693 |
Control skin fibroblast cell line 1, polyA RNA |
| GSM6502694 |
Control skin fibroblast cell line 2, polyA RNA |
| GSM6502695 |
Control skin fibroblast cell line 3, polyA RNA |
| GSM6502696 |
Individual 1, Skin biopsy-derived fibroblasts, small RNA |
| GSM6502697 |
Individual 2, Skin biopsy-derived fibroblasts, small RNA |
| GSM6502698 |
Individual 3, Skin biopsy-derived fibroblasts, small RNA |
| GSM6502699 |
Individual 4, Skin biopsy-derived fibroblasts, small RNA |
| GSM6502700 |
Individual 6, Skin biopsy-derived fibroblasts, small RNA |
| GSM6502701 |
Control skin fibroblast cell line 1, small RNA |
| GSM6502702 |
Control skin fibroblast cell line 2, small RNA |
| GSM6502703 |
Control skin fibroblast cell line 3, small RNA |
| GSM6502704 |
Parental HeLa-Cas9 cell line, polyA RNA |
| GSM6502705 |
Clone 12 of HeLa-Cas9 cell line with SNAPC4-Knockdown, polyA RNA |
| GSM6502706 |
Clone 19 of HeLa-Cas9 cell line with SNAPC4-Knockdown polyA, RNA |
| GSM6502707 |
Parental HeLa-Cas9 cell line, small RNA |
| GSM6502708 |
Clone 12 of HeLa-Cas9 cell line with SNAPC4-Knockdown, small RNA |
| GSM6502709 |
Clone 19 of HeLa-Cas9 cell line with SNAPC4-Knockdown small, RNA |
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| Relations |
| BioProject |
PRJNA872482 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE211811_RAW.tar |
8.2 Mb |
(http)(custom) |
TAR (of CSV) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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