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Home / Cells / Cell Lines

HighQC Induced Pluripotent Stem Cell, From Muscular dystrophy

SKU : BHC18002889

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AcceGen Biotech

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Mfr.No.	ABC-SC0233
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)).
Categories	Stem Cells
Application	For research use only
Species	Human

Shipping	Dry Ice
Storage	Liquid Nitrogen

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