CLCC1 Retinitis Pigmentosa Genomics Dataset

Human retinitis-pigmentosa WES/SNP data from eight families directly support inherited-retinal-disease analysis.

At a glance

Field	Value
Short name	dryad_clcc1_retinitis_pigmentosa
Full name	CLCC1 Retinitis Pigmentosa Genomics Dataset
First published	2019-07-23
Publication date precision	day
Publication date evidence	datadryad.org/api
Publication date source field	publicationDate
Publication date reviewed	2026-09-11
Primary category	omics
Resource role	current_dataset
Dataset family	dryad_clcc1_retinitis_pigmentosa
Contained modalities	omics
Tasks	classification
Primary reported quantity	Not reported
Classes	Not reported (Not reported)
Splits	all
Size	0.036634248 GB
Source-stated terms	https://spdx.org/licenses/CC0-1.0.html
Normalized terms	cc0
Descriptive screening label	Standard label without an explicit NC clause; not a permission finding
Terms scope	dataset_files
Access friction	self_service_authenticated
Route backend	Dryad
Availability	available (checked 2026-08-01)
Acquisition support	standard_platform_supported
Legacy sample-loader status	Metadata and access only

Reported quantities

No reproducible primary item count was exposed for the cataloged source version.

Counts retain their source-reported units. Additional rows can describe components, paired items, or derivative copies and are not automatically added to the primary quantity.

Notes

Scope screen: core_add. Current Dryad v1 file listing: 1 files, 36607394 bytes.

Access information and download

CLI

# Read-only preflight
eyehub download dryad_clcc1_retinitis_pigmentosa --data-dir ./data --dry-run --json

# Download, only when preflight reports supported behavior
eyehub download dryad_clcc1_retinitis_pigmentosa --data-dir ./data

Python

from eyedatahub.acquisition import preflight_dataset
from eyedatahub.datasets.registry import REGISTRY

ds = REGISTRY.get_dataset('dryad_clcc1_retinitis_pigmentosa')
print(preflight_dataset(ds, './data'))  # no download

Upstream page: https://doi.org/10.5061/dryad.3vv31qq

Source-term evidence: https://doi.org/10.5061/dryad.3vv31qq

Loader status

This catalog record provides metadata and access instructions, but it does not yet include a standard DatasetSample loader. Inspect the source file structure or contribute a loader before using it in a training pipeline.

Citation

BibTeX

@misc{dryad_clcc1_retinitis_pigmentosa,
  title  = { CLCC1 Retinitis Pigmentosa Genomics Dataset },
  note   = { Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A., Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, V. Gaurav, Michaelides, Michel, Moore, Anthony T., Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R., Cremers, Frans P.M., Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A., Riazuddin, Sheikh, Baple, Emma L., Riazuddin, Sheikh Amer, Crosby, Andrew H., Hejtmancik, J. Fielding, and Cremers, Frans P. M.. Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Dryad. 2019. doi:10.5061/dryad.3vv31qq },
  year   = { 2019 },
  url    = { https://doi.org/10.5061/dryad.3vv31qq },
}

Plain text

Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A., Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, V. Gaurav, Michaelides, Michel, Moore, Anthony T., Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R., Cremers, Frans P.M., Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A., Riazuddin, Sheikh, Baple, Emma L., Riazuddin, Sheikh Amer, Crosby, Andrew H., Hejtmancik, J. Fielding, and Cremers, Frans P. M.. Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Dryad. 2019. doi:10.5061/dryad.3vv31qq

Source-stated terms

• Raw source string: https://spdx.org/licenses/CC0-1.0.html
• Normalized category: cc0
• Apparent scope: dataset_files
• Descriptive screening label: Standard label without an explicit NC clause; not a permission finding

⚠️ Source-stated terms, scope, and normalized labels are curation metadata, not legal advice or a permission finding. Review the current official source before transfer or reuse.

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