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Products Description
RETT SYNDROME; RTT METHYL-CPG-BINDING PROTEIN 2; MECP2; Induced pluripotent stem cell line made from fibroblast; clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor carries a missense mutation, 916C>T [Arg306Cys (R306C)], in the gene encoding methyl-CpG binding protein 2 (MECP2)