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8de4adbc-63de-4b42-864b-3538902a0d09 - samples

ABSTRACT: Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 3 patients, two were diagnosed with Aniridia (ANI-0006 and ANI-0023) and another one was diagnosed with Retinitis Pigmentosa (RP-0247).

PROVIDER: EGAD00001005498 | EGA |

REPOSITORIES: EGA

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5d7bc34b-73f8-495f-b849-5afe235d7056 - samples

Project description:Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103).

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NanoString comparison of immune gene expression between AIR patients, RP patients and controls

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Project description:Retinitis pigmentosa (RP) is an inherited eye disease that causes progressive vision loss.To investigate the biological processes and molecular changes that occur in different cell types in the retinas in rd1 mice, a mouse model of retinitis pigmentosa, we performed single-cell RNA-seq to examine the transcriptomes of various retinal cells.

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Mus musculus strain:129SV

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Project description:Retinitis pigmentosa in Lapponian Herders

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Mouse retina single-cell RNA-seq of WT and two Nr2e3 mutant models to explore the role of Nr2e3 in cone and rod photoreceptor differentiation

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