Article
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.
Orphanet journal of rare diseases - 26 Mar 2026
Sharma Saumya, Bharti Vishal, Das Prosad Kumar, Rahman Abdul, Sharma Harshita, Rauthan Riya, Rc Madhumita, Gupta Neerja, Shukla Rashmi, Mohanty Sujata, Kabra Madhulika, Francis Kevin R, Chakraborty Debojyoti
Abstract excerpt
BACKGROUND: Megalencephalic Leukoencephalopathy with subcortical cysts (MLC), a rare and progressive neurodegenerative disorder involving the white matter, is not adequately recapitulated by current disease models. Somatic cell reprogramming, along with advancements in genome engineering, will allow the establishment of in-vitro human models of MLC for disease modeling and drug screening. In this study, we...
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