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Abstract Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3'UTR region of the DMPK gene that sequesters muscleblind-like proteins, blocking their ...
The lymphoblast cells (named 522-2666) used for iPSC generation were generated from a 26-year-old male diagnosed with a late onset form of DM1 and who is a member of a family in which intergenerational CTG contraction in the dystrophia myotonia protein kinase (DMPK) gene was reported (Pu...
Hypotonia, mental retardation, delayed muscle maturation, and developmental abnormalities characterize congenital DM, the most severe form of the disease. The DM mutation was identified as an expansion of a (CTG)n in the 3′ untranslated region (3′ UTR) of a gene encoding a serine-threonine ...
The KCL018 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting one allele of theDMPKgene encoding the dystrophia myotonica protein kinase (2200 trinucleotide repeats; 14 for the normal allele). The ICM was isolated ...
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease caused by a CTG repeat expansion in the 3′-untranslated region (UTR) ofDMPKgene. DM1 alleles containing non-CTG variant repeats (VRs) have been described, with uncertain molecular and clinical consequences. The expande...
Form: Frozen Protein Form: Full Length Research Category: Drug Development Species: Human Validated Application: Kinase Assay Molecular Weight: 96.8 kDa Gene Alias: DMPK, DM KinaseFamily: DMPK Kinase Family Protein Tag: GST Tag 储存 Storage Buffer: 50mM Tris, pH 7.5, 150mM NaCl...