Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
22 Oct 2024
Historique:
received: 24 03 2024
revised: 18 10 2024
accepted: 20 10 2024
medline: 27 10 2024
pubmed: 27 10 2024
entrez: 26 10 2024
Statut: aheadofprint

Résumé

Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms. The pathobiology underlying FSASD remains elusive. In this study, two induced pluripotent stem cell (iPSC) lines were generated from a mild and an intermediate FSASD patient and characterized to provide much-needed additional models for basic and translational studies.

Identifiants

DOI: 10.1016/j.scr.2024.103600 PMID: 39461116
pubmed: 39461116
pii: S1873-5061(24)00298-8
doi: 10.1016/j.scr.2024.103600
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

103600

Informations de copyright

Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Marya S Sabir (MS)

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.

Petcharat Leoyklang (P)

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Mary E Hackbarth (ME)

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Evgenia Pak (E)

Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Amalia Dutra (A)

Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Richard Tait (R)

ALSTEM, Inc., Richmond, CA, USA.

Laura Pollard (L)

Biochemical Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.

David R Adams (DR)

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

William A Gahl (WA)

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Marjan Huizing (M)

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

May Christine V Malicdan (MCV)

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.

Classifications MeSH