QualiCell® Induced Pluripotent Stem Cell-XLC309

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QualiCell® Induced Pluripotent Stem Cell-XLC309

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Cat.No.
CSC-C00121
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)].
Organism
Human
Source
Heritable Diseases Muscular Dystrophies CMD Specific; Gender: Female Age: 3 YR Race: Caucasian Biopsy Source: Skin
Recommended Medium
DMEM (high glucose)
Culture Properties
Feeder Dependent
Karyotype
46,XX
Quality Control
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.
Citation Guidance
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the Pub Med ID of your paper to get a coupon.

For research use only. Not for any other purpose.

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