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TranscriptomicsscRNA-seq data for Distinct Stem Cell Identities Converge into Shared Erythroid Stress in ERCC6L2 Disease and Shwachman-Diamond Syndrome
This study includes single-cell RNA sequencing of human samples across ERCC6L2 disease (ED), Shwachman-Diamond syndrome (SDS), acute myeloid leukemia (AML), and healthy controls. ED, SDS, and AML samples were processed for single-cell capture, followed by library preparation and sequencing. Sequenci...
ORGANISM(S): Homo sapiens 
2026-06-03 | E-MTAB-16984 | biostudies-arrayexpress
GenomicsShwachman Diamond syndrome SDS Exome sequencing
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome seque...
EGAS00001000264 | EGA
GenomicsTargeted Sequencing of Shwachman-Diamond syndrome bone marrow samples
Targeted sequencing of myeloid malignancy-associated genes as well as EIF6 in bone marrow samples in Shwachman-Diamond syndrome patients. Paired bone marrow fibroblasts serve as a germline control.
EGAS00001004879 | EGA
GenomicsWhole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples
To define the mechanistic basis of clonal hematopoiesis in Shwachman-Diamond syndrome (SDS), we investigated somatic mutations acquired by patients with SDS followed longitudinally. This dataset includes the initial discovery cohort whole exome sequencing from bone marrow samples used to identify n...
EGAS00001004880 | EGA
UnknownCounteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Not available
S-EPMC9962285 | biostudies-literature
UnknownThe frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Not available
S-EPMC8611838 | biostudies-literature
GenomicsRepolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome
Repolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome
PRJNA664115 | ENA
UnknownGrowth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years.
Not available
S-EPMC11010856 | biostudies-literature
UnknownReduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Not available
S-EPMC11996912 | biostudies-literature
UnknownShwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Not available
S-EPMC11637716 | biostudies-literature
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