HighQC™ Induced Pluripotent Stem C... AcceGen

HighQC™ Induced Pluripotent Stem Cell, From Muscular dystrophy

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 Candgt;T transition at nucleotide 7732 in exon 55 (7732Candgt;T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)].

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Număr Catalog 870-ABC-SC0233

CategorieAfaceri și industrie > Știință și laboratorFurnizorGentaurDimensiune1 vialTipsingle

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HighQC™ Induced Pluripotent Stem Cell, From Muscular dystrophy

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Dystrophin (DMD) (Marker of Duchenne and Becker Muscular Dystrophy)