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)
Age: 8 YR
Biopsy Source: Skin
The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directe
Storage and Shipping
Liquid nitrogen. Dry ice.
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