Characterization of an iPSC line reprogrammed from fibroblasts from P1. (A) Sequencing of genomic DNA from the iPSC line, revealing homozygosity for the same single nucleotide deletion at position 1428 identified in parental fibroblasts, and resulting in the p.N476Kfs*16 mutation. (B) Immunofluorescent staining and (C) quantitative PCR analysis of pluripotency markers expressed by the iPSCs. (D) Karyotypic integrity of P1 iPSC line.