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QualiCell® Induced Pluripotent Stem Cell-XLC309

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  • Specification
  • Review & FAQ
  • Recommended Products
  • 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)].
  • Recommended Medium
  • DMEM (high glucose)
  • Organism
  • Human
  • Culture Properties
  • Feeder Dependent
  • Karyotype
  • 46,XX
  • Source
  • Heritable Diseases Muscular Dystrophies CMD Specific; Gender: Female Age: 3 YR Race: Caucasian Biopsy Source: Skin
  • 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.
  • Tissue
  • Skin

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      Tel: 1-631-626-9181
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      Tel: 44-207-097-1828
      Email: info@creative-bioarray.com
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Contact Us
USA
45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-bioarray.com

Europe
Tel: 44-207-097-1828
Email: info@creative-bioarray.com