SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY;
Induced pluripotent stem cell line derived from fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc. ADA mutations found in fibroblasts used for reprogramming were verified in the iPSCs -- cells were compound heterozygous for mutations in the ADA gene: one allele had a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216[Gly216Arg(G216R)]; the other allele had a 5-nucleotide deletion (del nt1050-54; GAAGA), found by direct sequence analysis of exon 10 (PMID: (Park et al. Cell 134:877-86, 2008).
Age: 3 MO
Biopsy Source: Skin
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.
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