MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage
Saumya Sharma, Vishal Bharti, Prosad Kumar Das, Abdul Rahman, Harshita Sharma, Riya Rauthan, Madhumita RC, Neerja Gupta, Rashmi Shukla, Sujata Mohanty, Madhulika Kabra, Kevin R. Francis, Debojyoti Chakraborty
This study generates iPSC models of MLC by reprogramming patient-derived cells and gene editing, revealing disease-specific vacuolation in astrocytes and differentially expressed genes related to neurological disorders.
Orphanet Journal of Rare Diseases · Mar 26, 2026Peer-reviewedCell Biology