SAMEA2629641
ERS24107800
UNEWi001-A
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Attributes
| Type |
Value |
| SRA accession |
ERS24107800 |
| cell type |
induced pluripotent stem cell |
| disease state |
Retinitis pigmentosa |
| donor id |
SAMEA2629629 |
| material |
cell line |
| organism |
Homo sapiens |
| phenotype |
Age of onset: 15 years old |
| phenotype |
Bilateral extensive bone spicule pigmentation |
| phenotype |
Current visual acuities 6/18 and 6/36 with refraction of -2 and bilateral posterior subcapsular cataracts |
| phenotype |
Decreased central vision by 30 years old |
| phenotype |
Night blindness at 15 years old |
| phenotype |
PRPF31 |
| phenotype |
Retinitis Pigmentosa |
| phenotype |
attenuated arterioles |
| phenotype |
pale optic discs |
| project |
EBiSC |
| sex |
female |
| synonym |
UNEW001Ai |
| title |
Induced Pluripotent Stem Cell Line UNEWi001-A |
Organizations
| EBiSC |
| Role |
Distributor |
| Url |
https://ebisc.org/ |
| Institute of Genetic Medicine |
| Role |
Contact institution / working group |
| Url |
http://www.ncl.ac.uk/igm/ |
| Institute of Genetic Medicine |
| Role |
Distributor |
| Url |
http://www.ncl.ac.uk/igm/ |
| Institute of Genetic Medicine |
| Role |
Owner |
| Url |
http://www.ncl.ac.uk/igm/ |
| University of Newcastle |
| Role |
Generator |
| Url |
http://www.nesci.ac.uk |
Publications
| DOI |
PubMedId |
| 10.1038/s41467-018-06448-y |
30315276 |
| 10.1101/232397 |
No Pubmed ID available |
| 10.1155/2013/232397 |
23864986 |
BioSamples record history
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