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Article

Generation of iPSC and isogenic gene-corrected lines from a patient with Shwachman Diamond syndrome.

Stem cell research - 1 Sept 2026

Ghiasighorveh Parisa, Moore Summer, Kennedy Alyssa L

Abstract excerpt

Shwachman Diamond Syndrome (SDS) is an inherited bone marrow failure and leukemia predisposition syndrome characterized by exocrine pancreatic insufficiency, skeletal dysplasia and bone marrow failure. SDS is inherited in an autosomal recessive manner and most patients with SDS carry biallelic mutations in the SBDS gene. We generated an iPSC line from a patient biallelic SBDS mutations (c.258 + 2 T > C &...

Read the complete abstract on PubMed

Topics

Humans
Shwachman-Diamond Syndrome
Induced Pluripotent Stem Cells
Exocrine Pancreatic Insufficiency
Bone Marrow Diseases
Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Proteins

Source

Identifiers

PMID: 42364508
DOI: 10.1016/j.scr.2026.104045

Genes

SBDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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