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Product Name | HighQC™ Induced Pluripotent Stem Cell |
Description | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A; Induced pluripotent stem cell line derived from fibroblast; Clinically affected; symptom onset before 2 years of age; elevated creatine kinase (200-2,000 IU/L); diagnosis confirmed by muscle imaging and biopsy; abnormal white matter in brain by MRI/CT scan; head held up without assistance; turned in bed by age three years; no other milestones have been achieved; night time respiratory support; Donor subject is a compound heterozygote: maternal allele has a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG); the paternal allele has a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)]. |
Size | n/a |
Concentration | n/a |
Applications | n/a |
Other Names | n/a |
Gene, Accession, CAS # | n/a |
Catalog # | ABC-SC0233 |
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Order / More Info | HighQC™ Induced Pluripotent Stem Cell from ACCEGEN BIOTECH |
Product Specific References | n/a |
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