Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Journal: Stem Cell Research
Published:
Abstract
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming. The generated hiPSC line was free of Sendai virus genes, had stable karyotype, carried the homozygous mutation, was immunopositive to pluripotency markers and able to generate all three germ layers upon embryoid body formation. Resource table.
Authors
Dunja Lukovic, Ana Artero Castro, Marian León, Verónica Del Buey Furió, Marta Cortón, Carmen Ayuso, Slaven Erceg
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