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. 2024 Dec:81:103600.
doi: 10.1016/j.scr.2024.103600. Epub 2024 Oct 22.

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

Marya S Sabir  1 , Petcharat Leoyklang  2 , Mary E Hackbarth  2 , Evgenia Pak  3 , Amalia Dutra  3 , Richard Tait  4 , Laura Pollard  5 , David R Adams  6 , William A Gahl  7 , Marjan Huizing  2 , May Christine V Malicdan  8
Affiliations

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

Marya S Sabir et al. Stem Cell Res. 2024 Dec.

Abstract

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.

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Conflict of interest statement

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.

Figures

Fig. 1.
Fig. 1.
Characterization of two FSASD iPSC lines (iPSC-1, iPSC-2).
See this image and copyright information in PMC

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