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| Status |
Public on May 01, 2024 |
| Title |
Autism patient derived SHANK2BY29X mutation affects ALDH1A1 negative dopamine neuron development |
| Organisms |
Homo sapiens; Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Autism spectrum disorder (ASD) includes a series of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneous disease phenotypes, possibly due to functional diversity of generated isoforms. Increasing evidence indicates such phenomenon in SHANK2, a causative gene in ASD; however, there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here we reported a patient-derived mutation on SHANK2, hitting only the SHANK2B transcript variant (NM_133266.5), hereby SHANK2BY29X.
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| Overall design |
We conducted an analysis of the transcriptome of an autism patient clone (PC1) and his unaffected father (HC1) during 9 days of neural induction from induced pluripotent stem cells (iPSCs).
***Submitter declares that the RNA-seq raw data is not provided due to patient privacy concerns***
***Submitters state that the result of the scRNA-seq seq bam file viewed in IGV is included in the associated manuscript (i.e. no quantified processed data for scRNA-seq samples).
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| Contributor(s) |
Lai W, Zhao Y, Chen Y, Dai Z, Niu Y, Chen X, Chen S, Huang G, Shan Z, Zheng J, Hu Y, Chen Q, Gong S, Kang S, Guo H, Ma X, Song Y, Xia K, Wang J, Wang K, Qiu S, Zhang L, Chen J, Shi L |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Feb 20, 2024 |
| Last update date |
May 02, 2024 |
| Contact name |
Yingying Zhao |
| E-mail(s) |
zhao_yingying@gibh.ac.cn
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| Organization name |
Guangzhou Institutes of Biomedicine and Health
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| Department |
Chinese Academy of Sciences Guangzhou Branch
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| Street address |
Kaiyuan Avenue
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| City |
Guangzhou |
| ZIP/Postal code |
510530 |
| Country |
China |
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| Platforms (2) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
| GPL19057 |
Illumina NextSeq 500 (Mus musculus) |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA1078417 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE256210_RAW.tar |
42.6 Mb |
(http)(custom) |
TAR (of RESULTS) |
SRA Run Selector |
| Raw data are available in SRA |
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