Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1


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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lukovic D, Artero Castro A, León M, Del Buey Furió V, Cortón M, Ayuso C, Erceg S
Journal Stem cell research
Publication Date 2018 Dec;33:151-155
PubMed 30366342
DOI 10.1016/j.scr.2018.10.012

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