4.2 Article

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

Journal

STEM CELL RESEARCH
Volume 33, Issue -, Pages 151-155

Publisher

ELSEVIER
DOI: 10.1016/j.scr.2018.10.012

Keywords

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Funding

  1. Institute of Health Carlos III (ISCIII)/FEDER (European Regional Development Fund), Spain [PI16/00409, CP10/00579, PI14/02209, PT13/0001/0042, PT17/0019/0024]
  2. ISCIII-FEDER [PI16/00425]
  3. CIBERER [06/07/0036]
  4. IIS-FJD Biobank [PT13/0010/0012]
  5. Spanish National Organization of the Blind (ONCE)
  6. Spanish Fighting Blindness Foundation (FUNDALUCE)
  7. Ramon Areces Foundation
  8. Miguel Servet Program from ISCIII [CPII17_00006]

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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.

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