Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.
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DOI: 10.1016/j.scr.2019.101428
Abstract: Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be… read more here.
Keywords: patient calfan; calfan syndrome; stem cell; syndrome due ... See more keywords